Home | News    Tuesday 8 March 2011

Girl missing hands and one leg in Rubkotna county of Unity state

separation
increase
decrease
separation
separation

By Bonifacio Taban Kuich

March 7, 2011 (BENTIU) – A baby girl was born eight months ago without hands and one leg with three feet in her body occurred in Rubkotna County of Unity State.

Simon Ruach Keat and his wife Elizabeth Nyawal Ruot told Sudan Tribune on Sunday that they had given their eight month year old daughter the name Bhakita Chuongang Simon, indicating that she is lucky despite her abnormalities.

Bhakita’s birth has raised some concerns by superstitious local people in Rubkotna.

Her mother Elizabeth said that is always thinking about what how to look after the daughter that God has given her for the rest of her life. She asked the world to assist her family in caring for the child. Health facilities in South Sudan are underdeveloped after decades of civil war.

Elizabeth said that since she gave birth to her daughter she has not had had a single chance to feel happy. She said that she always feels shameful when she takes Bhakita out in public whenever other people are with her because they think she is a witch. Whenever she meets people their first reaction is fear and to keep their distance she said.

She added that when she visited Bentiu Teaching Hospital during her pregnancy the doctors did not inform her there was anything unusual about her child. Elizabeth added that she has sought help and advice from local authorities in Rubkotna on how to go look after her child. Bhakita is the families sixth child.

(ST)

Comments on the Sudan Tribune website must abide by the following rules. Contravention of these rules will lead to the user losing their Sudan Tribune account with immediate effect.

- No inciting violence
- No inappropriate or offensive language
- No racism, tribalism or sectarianism
- No inappropriate or derogatory remarks
- No deviation from the topic of the article
- No advertising, spamming or links
- No incomprehensible comments

Due to the unprecedented amount of racist and offensive language on the site, Sudan Tribune tries to vet all comments on the site.

There is now also a limit of 400 words per comment. If you want to express yourself in more detail than this allows, please e-mail your comment as an article to comment@sudantribune.com

Kind regards,

The Sudan Tribune editorial team.
  • 8 March 2011 05:26, by Bol Deng

    Please Elizabeth, you have noting to shame because you have been a wonderful woman in your life and this is why you have some children older than Bhakit. There is nothing wrong with your family or you character. The God just give you your daughter and who knows what God gave you. Please fill courage and Godbless you and your family. Thanks

    repondre message

    • 8 March 2011 06:07, by Dengcol malual

      Bol Deng

      I can’t agree with you more because she had done nothing wrong and nothing to be a shame of in that case. however, don’t worry about your neighbors or strangers who think about your daughter as a witch because they know nothing. do what you can to take care of her like other kids you already have before her.

      repondre message

      • 8 March 2011 06:48, by Land-of-Cush

        Dengcol

        To tell the realty Bol Deng said no wrong in his comment. In my unerstanding, he have already encourage the family of Bhakit; That he said nothing can make them ashame do you read me on that? Thank Bol Deng I never expect you to give such amazining encouragement to the family of any one from Nuer Community.

        repondre message

    • 8 March 2011 06:39, by Omoni Atari

      This is almighty God decision, and No man can say NO Him.
      And to reporter,
      This is family sensitive issues and must not be report anyhow in the news,there is what called confidentiality and privacy information.

      repondre message

      • 8 March 2011 09:27, by actiongatkuoth

        oh God !!!!!!!!!!
        iam so sorry for what happen in Unity state ,
        that is God his decision,
        nobody can reject him.
        may almighty God be with you.
        thank

        repondre message

    • 8 March 2011 06:57, by Jeti

      So amazing! We never know the woman might have given birth to Nyangundeng. Thanks Elizabeth Nyawal for naming her Bhakita but you would have added Nyangundeng. Such things are the fulfilments of Ngundeng’s prophecies. May God bless her. GOSS need to take care of her.

      repondre message

      • 8 March 2011 07:05, by Land-of-Cush

        Jeti

        laughing on that situation!!!!

        Be careful the same thing will happen in your family.

        repondre message

      • 8 March 2011 07:06, by Omoni Atari

        Jeti,
        Why are you moronically and intentionally insulting the family of Bhakita? Born to Ngundeng??
        please ,you need to grow up and be responsible, instead acting like five years old boy or girl.you also insulting the whole community of those who believe in Ngundeng.
        You have to respect people’s family,

        repondre message

        • 8 March 2011 07:22, by Dinka Dominated SPLA

          Sorry God is the creater nobody should be blame.
          And by the way why do those so called reporter repote this things?

          repondre message

      • 8 March 2011 07:10, by onlysonmabi

        Mama Elizabeth ask God to care for her as God knows why she created her, but you Jeti there is no thing call like that Nguendeng did not prophiced something like that.this Nguendeng will take you no were.

        repondre message

    • 8 March 2011 15:54, by mayom maboung marek

      people connect it with superstitious which is not there nor the mistake of the mother.

      if the case is look on medical angle, it is when mother used Aspirin during earlier period of pregnancy [1-4 months] while specialised organs were being formed , that resulted into some thing like that.

      mayom mabuong marek

      repondre message

    • 10 March 2011 09:29, by kuol M. Deng

      Our Doctors
      Services
      Careers @ Children’s
      Help The Children
      About Us & Info
      Staying Overnight & Visiting
      News
      Health Encyclopedia

      Children’s Hospital Central California > Health Encyclopedia > Medical Genetics > Testing for Birth Defects > Studies for Single Gene Defects: DNA (Direct and Indirect) En Español
      Studies for Single Gene Defects: DNA (Direct and Indirect)
      What are the different studies for single gene defects?
      Genes are made up of the chemical DNA. To study genes, you have to analyze the DNA to determine whether the DNA "alphabet" has any "spelling errors" in it. There are two ways to analyze the DNA: by direct studies (looking at the actual gene itself), or by indirect studies (looking at markers very close to the gene).

      Direct DNA studies
      Direct DNA studies simply look directly at the gene in question for an error. Errors in the DNA may include a repeated piece of DNA such as a trinucleotide repeat, a missing piece of DNA (deletion), or an alteration in the DNA code (point mutation). Different types of errors or "mutations" are found in different disorders. It is important to first find which type of error is present in a family by studying the family member with the disorder in question. The results of their DNA test are then used to compare directly to other relatives in the family to determine who else has the disease or carries the gene for the disease (and is at risk to pass it on to the next generation). The DNA is usually obtained by taking a blood sample.
      Indirect DNA studies
      Sometimes, the error in the gene responsible for causing a disease has not been identified. In these cases "markers" are used to find out whether a person has inherited the crucial region of the genetic code that is passing through the family with the disease. Markers are DNA sequences located close to the area of interest which are so close that they are almost always inherited together with the disease. When markers are this close to a gene where they are inherited together, they are said to be "linked." In this way, if someone has the set of linked markers, they will also have the disease-causing gene. For this reason, these types of studies are also called "linkage studies."
      The family member with the disorder in question is studied first (as in direct DNA analysis) and the pattern of their markers is compared to other relatives. If there is an exact match, then those relatives are also likely to have the faulty gene.

      The accuracy of linkage studies depends on how close the markers are to the faulty gene. In some cases, a reliable marker is not available and the test, therefore, cannot give any useful information to the healthy family members. In many cases, several family members are needed to establish the most accurate set of markers to determine who is at risk for the disease in the family. Linkage studies may take many weeks to complete because of the complexity of these studies.
      Health Encyclopedia Topics Adolescent Medicine Allergy, Asthma and Immunology Blood Disorders Burns Cardiology Care of the Terminally Ill Child Child and Adolescent Mental Health Child Having Surgery Craniofacial Anomalies Common Childhood Injuries and Poisonings Dental and Oral Health Dermatology Diabetes Endocrinology Digestive and Liver Disorders Ear, Nose, and Throat Eye Care Genitourinary and Kidney Disorders Growth and Development High-Risk Newborn High-Risk Pregnancy Infectious Diseases Medical Genetics Neurological Disorders Normal Newborn Oncology Orthopaedics Pediatric Arthritis and Other Rheumatic Diseases Pregnancy Respiratory Disorders Safety and Injury Prevention Transplantation
      Select A Service Centers The Willson Heart Center The Rehabilitation Center The Craycroft Cancer Center --- Highlighted Programs --- Magnet Nursing Hospitalists Surgical Services Pediatric Intensive Care Perinatology Neonatology Prenatal Diagnostic Center Patient Throughput Minimal Blood Loss Surgery --- Medical Services --- Anesthesiology Audiology Cardiac Surgery Cardiology Cardiac Testing Center Catheterization Laboratory Children’s Home Care Complex Primary Care Critical Care Dental, Oral & Maxillofacial Diabetes Emergency Medicine Endocrinology Evoked Potential Exercise Laboratory Gastroenterology Genetic Medicine & Metabolism Hematology Immunology Infectious Disease Medical Imaging Neonatology Nephrology Neurology Neurology Testing Center Neuropsychology Neurosurgery Occupational Therapy Oncology Ophthalmology Orthopaedic Surgery Otolaryngology Pathology Pediatric Surgery Perinatology Physiatry Physical Therapy Plastic Surgery Prenatal Diagnostic Center Psychology Pulmonology Radiology Rheumatology Sleep Services Speech Services Trauma Services Urology --- Clinical & Professional --- Case Management Child Abuse and Prevention Child Life Interpreter Services Newborn Screening Program Nutrition & Weight Management Pain Management Patient Representative Pedicatric Research Respiratory Care Social Services Spiritual & Chaplain Services --- Outcomes & Research --- Quality Measurements Clinical Trials & Research — Medical Office & Physician Services — Refer A Patient Childnet Medical Associates Continuing Medical Education Hospitalists Medical Library Medical Records Medical Staff Services Medical Transport Outcomes Clinical Pathways Physician Liaison Organ Donations PALS Pediatric Life Support UCSF Fresno Residency Program Specialty Medical Group — Satellite Locations — Charlie Mitchell Children’s Clinic Merced Pediatric Subspecialty Center Modesto Pediatric Subspecialty Center Fresno Rehabilitation Center — Partnership Locations — Doctors Medical Center Emanuel Medical Center Kaweah Delta Hospital Mercy Medical Center Sierra View District Hospital Sierra Vista Medical Center Saint Agnes Medical Center Central Valley General Hospital — Hospital To Hospital Services — Medical Transport Nursing Education Medical Library Clinical Pathways — Community Services — Children’s Advocacy Network Emergency Nurses Care Health Fair Literacy Programs Little Heroes Injury Prevention Poison Control Center Organizations We Support — Financial Services — Billing & Accounts Payable Financial Aid
      Find Doctor By Specialty Allergy Anesthesiology Cardiac Surgery Cardiology Clinical Psychology Critical Care Medicine Dentistry Dermatology Diagnostic Radiology Emergency Medicine Endocrine Surgery Endocrinology Family Practice Gastroenterology Gastroenterology General Practice Genetics Hematology Hematology/Oncology Hospitalist Immunology Infectious Disease Internal Medicine Maternal-Fetal Medicine Maxillofacial Surgery Neonatology Nephrology Neurological Surgery Neurology Neuropsychology Obstetrics & Gynecology Oncology Ophthalmology Orthopaedic Surgery Otolaryngology Pathology Pediatrics Pediatrics - Primary Care Perinatology Physical Medicine and Rehabilitation Plastic Surgery Podiatry Psychiatry Pulmonary Diseases Radiation Oncology Rheumatology Surgery Surgery - Pediatric Urological Surgery Urology

      QuickLinks
      Biochemical Genetic Testing

      Chromosome Studies: Karyotype, Extended Banding, Fluorescence In Situ Hybridization (FISH), and Chromosomal Microarray Analysis

      Studies for Single Gene Defects: DNA (Direct and Indirect)

      RelatedItems
      Genetic Medicine & Metabolism

      Prenatal Diagnostic Center

      Newborn Screening Program

      Medical Staff
      Powell, Berkley, MD, FAAP, FACMG
      Shen, Joseph, MD, PhD
      Winter, Susan, MD
      Hauser, Natalie, MD

      Copyright 2011 :: Children’s Hospital Central California :: 9300 Valley Children’s Place :: Madera, California 93636-8762 :: 559-353-3000

      repondre message

  • 8 March 2011 05:30, by Hero

    God’s gives and he will care for her. Therefore, let’s not worry, since the creator is there for her.

    repondre message

    • 8 March 2011 07:59, by Cibaipiath Junub Sudan

      Let us be careful in this case. God gives and care. For the family of Simon and Elizabeth, they are all christians. It is God plans to give them special rewards that is so unique and that tells everyone who is productive not to be scared and disowned whatever God gives. Jesus may come to earth in form of many ways through mother or father. Let us pray to God to care for what He gave to this family.

      repondre message

  • 8 March 2011 08:26, by Nguetbuny de Luelpiny

    Nyawal does not have to be shame on anything.
    it is disablitiy before it was born. or some can get disablity after it born. shut those who dismay you and there are evile minded. do they knew why how their children be bone?

    everybody is with you Nyawal family.

    God bless you with your family and the child

    by the name of Deng Abuk.

    soul of humanbeing

    Nguetbuny

    repondre message

  • 8 March 2011 10:07, by ogopa2011

    THIS DISORDER HAS SOMETHING TO DO WITH ENVIRONMENTAL CONTAMINANT(S). THERE ARE NO SUPERSTITION SHITS ASSOCIATED WITH THESE DEFECTS. IT’S A MATTER OF INVESTIGATING WHAT ENVIRONMENTAL CONTAMINANT(S) THE MOM HAS BEEN EXPOSED TO SINCE THE FIRST DAY SHE CONCEIVED.

    FOR THOSE WHO ARE STILL BELIEVING IN SUPERSTITIOUS STUFFS, YOU EITHER STOP IT OR YOU GO TO SCHOOL AND LEARN SOMETHING!!!

    [I know what am talking about].

    repondre message

    • 8 March 2011 10:46, by harry

      Dear og2011,

      I agree with your point. It has something to do environmental contaminations. Probably petroleum since Unity State produces oil. I saw this kind of cases in Guatemala when Texico Oil Company spilled crude oil on the land. Many natives people came sick and many more kids were born with birth defects such as this one in Unity State. The lady and her kid should consult with a good specialty law firm to seek her lawful rights. I think she got a case.

      Harry,

      repondre message

      • 8 March 2011 14:37, by Nhomlawda

        See these poor trained doctors are not even able to help the woman by providing counseling and advising her that the problem is not hers but aftermath of war.
        It is a result of heavy use of tactical surface to surface missiles among civil population during Sudan south-north civil war.
        Oil waste might be associated with such abnormalities too.
        Unity State Government and GOSS health authorities should act immediately by investigating the cause so that remedy is taken otherwise it may repeat itself.

        repondre message

        • 8 March 2011 17:38, by NgorKur Mayol Chier

          For those who their minds think as was God’s decision for the baby to be born abnormal likes that. In fact, maybe you are right or not to be opening your mouthy pieces trying to blame God for that while we are blind to see the root case of this problem in our life. For instance, if there are a few among you who should knows the history of Japan very well after the automatics boom,than you will agree with me on this stuff. For example in Japan, People are still being born missing some parts in their bodies like what happened to this girl in Unity State. So in my own way to understand this, I think it is the misusing of the oil exploitation in the area, and the way people are still to drinking unclean water mixed with oil diffusion is what seems in my mind as one of element that be include as the case for the girl to be born like that in the story of her family. I can blame no body just only the oil company because they are drilling oil without following the environmental law protection that can protect the human population in the area.

          Thanks

          repondre message

        • 8 March 2011 18:56, by ogopa2011

          "It is a result of heavy use of technical surface to surface missiles.......".

          DO THE INVESTIGATIONS BEFORE YOU CONCLUDE, MR!!!!!!

          repondre message

      • 10 March 2011 09:33, by kuol M. Deng

        Home > Learn > DNA Mutations

        Conditions

        Alzheimer’s
        Breast Cancer
        Colon Cancer
        Diabetes
        Heart Disease
        Hemochromatosis
        Ovarian Cancer

        Tools

        Medical Glossary

        Genetics 101

        Overview of Genetics
        Inheritance Patterns
        DNA Mutations
        Changing Your Risk
        Genetics and the Future
        Personalized Medicine
        Ashk. Jewish Genetics
        Inherited/Sporadic Cancer

        Genetic Testing

        The Testing Process
        Where Is Testing Done?
        Who Orders Genetic Tests?
        Costs of Genetic Testing

        Ethical Issues

        Genetic Information
        Genetic Discrimination
        Health Insurance

        Research Participation

        Types of Clinical Trials
        What Should I Know?
        From Gene To Cure
        List of Clinical Trials

        Resources

        Genetic Counseling
        Find a Genetic Counselor
        Find a Support Group
        Getting Medical Records
        Talking With Your Family
        Help for Adoptees
        Help for Birth Parents

        Awards

        "Genetic Health does more than hit just a home run — it’s a grand slam in the bottom of the ninth to win the game ... one of the very best health-related sites we have ever had the pleasure to view." — Wally Gross, Surfers Choice Review Team

        "This coveted award is only given to sites which excel not only in user-friendly design but also in depth of content. Your site has exceeded all of our expectations in these areas. We were particularly impressed by the amount of detailed and useful information that you make available to your visitors." — Eye-Dentity Web Team

        Genetics 101
        DNA Mutations

        By Amanda Ewart Toland, PhD

        Reviewed by Karen Hales, PhD
        Last updated January 3, 2001

        One look around a room tells you that each person has slight differences in their physical make up — and therefore in their DNA. These subtle variations in DNA are called polymorphisms (literally "many forms"). Many of these gene polymorphisms account for slight differences between people such as hair and eye color. But some gene variations may result in disease or an increased risk for disease. Although all polymorphisms are the result of a mutation in the gene, geneticists only refer to a change as a mutation when it is not part of the normal variations between people.

        How Do Mutations Occur?
        What Kinds of Mutations Are There?

        How Do Mutations Occur?

        Copying errors are introduced when DNA replicates itself.

        Everyone acquires some changes to their DNA during the course of their lives. These changes occur in a number of ways. Sometimes there are simple copying errors that are introduced when DNA replicates itself. (Every time a cell divides, all of its DNA is duplicated so that the each of the two resulting cells have a full set of DNA.) Other changes are introduced as a result of DNA damage through environmental agents including sunlight, cigarette smoke, and radiation. Our cells have built in mechanisms that catch and repair most of the changes that occur during DNA replication or from environmental damage. As we age, however, our DNA repair does not work as effectively and we accumulate changes in our DNA.

        Germline mutations are what cause diseases to run in families.

        Some of these changes occur in cells of the body — such as in skin cells as a result of sun exposure — but are not passed on to children. But other errors can occur in the DNA of cells that produce the eggs and sperm. These are called germline mutations and can be passed from parent to child. If a child inherits a germline mutation from their parents, every cell in their body will have this error in their DNA. Germline mutations are what cause diseases to run in families, and are responsible for the kind of hereditary diseases covered by Genetic Health.

        top

        What Kind of Mutations Are There?
        A gene is essentially a sentence made up of the bases A, T, G, and C that describes how to make a protein. Any changes to those instructions can alter the gene’s meaning and change the protein that is made, or how or when a cell makes that protein. There are many different ways to alter a gene, just as there are many different ways to introduce typos into a sentence. In the following examples of some types of mutations, we use the sentence "The fat cat ate the wee rat" as a sample gene:

        Point Mutation
        A point mutation is a simple change in one base of the gene sequence. This is equivalent to changing one letter in a sentence, such as this example, where we change the ’c’ in cat to an ’h’:

        Original
        The fat cat ate the wee rat.

        Point Mutation The fat hat ate the wee rat.

        Frame-shift mutation
        Frame-shift mutations. In a frame shift mutation, one or more bases are inserted or deleted, the equivalent of adding or removing letters in a sentence. But because our cells read DNA in three letter "words", adding or removing one letter changes each subsequent word. This type of mutation can make the DNA meaningless and often results in a shortened protein. An example of a frame-shift mutation using our sample sentence is when the ’t’ from cat is removed, but we keep the original letter spacing:

        Original
        The fat cat ate the wee rat.

        Frame Shift The fat caa tet hew eer at.

        Deletion
        Mutations that result in missing DNA are called deletions. These can be small, such as the removal of just one "word," or longer deletions that affect a large number of genes on the chromosome. Deletions can also cause frameshift mutations. In this example, the deletion eliminated the word cat.

        Original
        The fat cat ate the wee rat.

        Deletion The fat ate the wee rat.

        Insertion
        Mutations that result in the addition of extra DNA are called insertions. Insertions can also cause frameshift mutations, and general result in a nonfunctional protein.

        Original
        The fat cat ate the wee rat.

        Insertion The fat cat xlw ate the wee rat.

        Inversion
        In an inversion mutation, an entire section of DNA is reversed. A small inversion may involve only a few bases within a gene, while longer inversions involve large regions of a chromosome containing several genes.

        Original
        The fat cat ate the wee rat.

        Insertion The fat tar eew eht eta tac.

        DNA expression mutation
        There are many types of mutations that change not the protein itself but where and how much of a protein is made. These types of changes in DNA can result in proteins being made at the wrong time or in the wrong cell type. Changes can also occur that result in too much or too little of the protein being made.

        top

        <>

        Inheritance Patterns Learn Home Changing Your Risk

        ©Copyright 2000, 2001 Genetic Health. All Rights Reserved.
        Contact Us

        repondre message

  • 8 March 2011 17:22, by Alfredo christiani

    Dear readers
    These are disadvantages and consequences of oil in the area. Very bad news.

    repondre message

  • 8 March 2011 21:07, by JAMES KUOI STEPHEN

    God Almighty createred her for purpose of no one know why it has happened. Don’t feel suspious about her, God care about her, thought she look different among people, we still love her. one of day she will discribe herself,that Living God Almighty had brought her to the world for reason to be a life.You should keep loving your daughter in thank of praise to our Lord Jesus Christ who open the blind people eye to see and have their right of freedom to live as human being.

    May Holy Spirit of Christ Jesus give you the strength to take your’s daughter responsiblility,who was born in the Land of Cush to be inclussive in our society of peace and co.operation. luke5:31-32

    repondre message

    • 10 March 2011 09:27, by kuol M. Deng

      Nothing of God connection in birth defect or fetal deformities: What does this mean? SponsorshipClose
      This organization has provided generous financial support in order to enable this content, created by Nature Education’s editorial team, to be made available to all users free of charge. The sponsoring organization has had no involvement in the creation, review, selection, or editing of the content in this area in any way. We encourage you to learn more about the sponsor’s activities and support of education by clicking on one of their banners in our site.

      Register
      | Sign In


      Visual BrowseClose | Lead Editor: Alexandre Vieira
      Genes and Disease
      Birth Defects: Causes and Statistics
      By: Ingrid Lobo, Ph.D. (Write Science Right) & Kira Zhaurova, M.S. (Nature Education) © 2008 Nature Education Citation: Lobo, I. & Zhaurova, K. (2008) Birth defects: causes and statistics. Nature Education 1(1) Every year, about 7.9 million infants (6% of worldwide births) are born with serious birth defects. With the causes of over 50% of birth defects unknown, how do we diagnose and prevent them?

      1Introduction2Chromosomal Abnormalities 3Single-Gene Defects 4Multifactorial Influences 5Prenatal Environment 6Limiting the Frequency of Birth Defects 7References and Recommended Reading
      Every year, an estimated 7.9 million infants (6% of worldwide births) are born with serious birth defects. Although some congenital defects can be controlled and treated, an estimated 3.2 million of these children are disabled for life. Moreover, birth defects are the leading cause of infant mortality in the United States. But where do these defects come from? Although some birth defects are inherited, others are a product of harmful environmental factors known as teratogens, and still others are multifactorial, resulting from a complex interaction of genetic and environmental influences. However, in approximately half of all birth defect cases, the causes are unknown (Christianson et al., 2006).

      Genetic causes of birth defects fall into three general categories: chromosomal abnormalities, single-gene defects, and multifactorial influences. Prenatal environment can play a major role in the development of defects in all three categories, especially those linked to multifactorial causes.

      Chromosomal Abnormalities

      Figure 1
      A person’s genetic makeup is determined at conception. It is then, during the nuclear events of fertilization, that the genetic causes of many birth defects are determined. For example, chromosomal abnormalities, or large-scale duplications or deletions of chromosomal segments or entire chromosomes, can become apparent during this period. Many zygotes that carry such abnormalities do not develop into embryos, but among those that are carried to term, trisomy 21 (Down syndrome), trisomy 13 (Patau syndrome), and trisomy 18 (Edwards syndrome) are the most frequent birth defects. Embryos with these three conditions will develop severe disabilities regardless of the environmental factors associated with the pregnancy.

      Unlike Down syndrome patients, who usually have a relatively long life span, children with Patau and Edwards syndromes often die soon after birth (March of Dimes, 2006). Individuals diagnosed with Patau syndrome suffer from neurological problems, mental and motor deficiencies, and polydactyly (Figure 1), as well as eye, heart, and spine defects (Patau et al., 1960). Those born with Edwards syndrome suffer mental retardation, breathing and feeding difficulties, delayed growth, and malformations of the kidneys, intestines, and heart (Edwards et al., 1960; Van Dyke & Allen, 1990). Thankfully, both of these devastating syndromes are rare.

      Figure 2: Primary Down syndrome is caused by the presence of three copies of chromosome 21.
      (a) A child who has Down syndrome. (b) Idiogram of a person who has primary Down syndrome.
      Copyright National Institutes of Health.Down syndrome, on the other hand, is by far the most common chromosomal abnormality, affecting 1 in 800 babies. The risk of having a child with this condition increases with maternal age, rising exponentially after a woman reaches age 35. For instance, in young mothers, the frequency of trisomy 21 is about 1 in 2,000, but this frequency rises to 1 in 100 when a woman is 40 and to 1 in 12 when she is 50 years old (Figure 2). People who have Down syndrome suffer from moderate to severe mental retardation and a wide variety of health problems, including heart defects, leukemia, and Alzheimer’s disease. The severity of these defects varies widely, however, and the majority of people with Down syndrome live semi-independent lives, with an average life expectancy of 56 in the United States (Eyman et al., 1991). Aneuploidies such as Down syndrome can generally be detected by the presence of additional chromosomes or chromosome translocations in a karyotype or FISH profile.

      Single-Gene Defects
      As opposed to chromosomal abnormalities, single-gene defects are usually inherited. For example, phenylketonuria (PKU) is a heritable condition caused by the malfunction of the PAH enzyme that breaks down the amino acid phenylalanine. Because this enzyme is coded for by the PAH gene on chromosome 12, PKU falls under the category of single-gene defects.

      Interestingly, many single-gene defects are variably prevalent among different racial and ethnic groups. For instance, sickle-cell anemia (a disorder of the hemoglobin) is most common among people of African, Indian, and Mediterranean descent, whereas Tay-Sachs and Sandhoff diseases (both of which affect the nervous system) occur most frequently among Ashkenazi Jews. Tay-Sachs and Sandhoff diseases are both caused by a lack of the protein hexosaminidase, which controls the levels of fatty buildup in the brain. Specifically, autosomal recessive mutations in the HEXA gene on chromosome 15 cause various forms of Tay-Sachs, while the presence of a mutated HEXB gene on chromosome 5 causes Sandhoff. These disorders mainly affect young children, who typically die during the first few years of life from progressive neural degeneration.

      Multifactorial Influences
      In certain cases, a combination of genetic mutations and teratogens leads to the development of multifactorial birth defects. Although the exact causes of most multifactorial disorders are poorly understood, doctors can often identify common trends among similar conditions. Folate deficiency, for example, appears to play a role in various malformations of the neural tube, but the cumulative causes of such malformations and their relative contribution are rather complex. Neural tube defects have also been linked to trisomy 18, numerous mutations in the genes necessary for the development of the nervous system, and exposure to certain epilepsy drugs. Of the different forms of neural tube defects, a condition known as anencephaly is arguably the most severe. Anencephalic babies lack most of their brain and are often stillborn or die soon after birth. Spina bifida is a (relatively) less severe defect of the neural tube characterized by a series of deformities that are associated with incomplete enclosure of the spinal cord by the twenty-eighth day of development. The exposed spinal cord and the surrounding tissues are usually sealed surgically soon after birth, but the neurological effects, including partial paralysis and loss of bladder control, often last a lifetime.

      Of course, not all birth defects have such profound consequences. Consider, for example, cleft lip and palate; this is a multifactorial birth defect that, if left uncorrected, can create difficulties with eating and speech. Children born with cleft lip usually undergo corrective surgery at an early age. Although genes definitely play a role in the development of this defect, environmental factors, including smoking and the use of antiseizure drugs, have been associated with a greater risk of bearing a child with cleft lip and/or palate (Ericson et al., 1979; Knight & Rhind, 1975).

      Prenatal Environment
      It is difficult to overemphasize the importance of prenatal environment to a developing fetus. Indeed, a pregnant mother’s health, diet, and level of exposure to toxins and environmental pollutants all have a direct effect on fetal development. For example, one of the most highly publicized cases of widespread toxin exposure associated with a pronounced increase in birth defects involves the use of Agent Orange, an herbicide that contains the poison dioxin, by the U.S. Army during the Vietnam War. Since the end of that conflict, the frequency of birth defects in those areas exposed to dioxin has risen to almost three times the norm. Dioxin, a product of industrial processes, disrupts the function of nuclear receptors and interferes with cell signaling. Moreover, dioxin is fat soluble and takes a long time to degrade, which means it can build up over time in soil, in water, and in the fatty tissue of animals that humans consume.

      Other environmental toxins that might harm a fetus are taken voluntarily, such as drugs, alcohol, and cigarettes. For instance, excessive maternal alcohol consumption often causes fetal alcohol syndrome, which is characterized by defects of major organs, abnormal facial features, and mental retardation. Similarly, smoking during pregnancy has been linked to an increased risk of stillbirths, low birth weights, and cleft lip and/or palate (Ericson et al., 1979; Knight & Rhind, 1975). Although studies have not demonstrated a strong correlative link between a high incidence of birth defects and consumption of moderate amounts of alcohol and tobacco, doctors strongly recommend complete abstinence from smoking and drinking during pregnancy.

      Yet another major factor linked to abnormal prenatal development is poor diet during pregnancy. Certain foods, such as seafood with high mercury content, should be consumed in moderation, whereas other high-vitamin foods are encouraged. Dietary supplements, such as folate (vitamin B9) and iodine taken before and during the early stages of pregnancy, can aid in development of the neural tube. It is important to understand, however, that good diet and a healthy lifestyle do not ensure a healthy child, although they do play a protective role in certain individuals.

      Limiting the Frequency of Birth Defects
      Although some congenital defects cannot be prevented, improvements in health care, nutrition, and education can reduce their frequency and phenotypic severity. The increasing use of prenatal genetic screens and preimplantation genetic diagnosis (PGD) is also helping limit the frequency and the severity of birth defects. These advances are a great tool, but they also have a surprising downside. Specifically, deleterious genetic mutations that have a recessive pattern of inheritance will remain in the population if the parents seeking PGD are allowed to select only healthy embryos to be carried to term. The current use of this technique, however, is limited to the select few who can afford it, so this phenomenon will not have a noticeable impact on the overall population for quite some time.

      References and Recommended Reading


      Christianson, A., et al. March of Dimes Global Report of Birth Defects: The Hidden Toll of Dying and Disabled Children. (2006) (accessed August 28, 2008).

      Edwards, J. H., et al. A new trisomic syndrome. Lancet 1, 787–790 (1960)

      Ericson, A., et al. Cigarette smoking as an etiologic factor in cleft lip and palate. American Journal of Obstetrics and Gynecology 135, 348–351 (1979)

      Eyman, R. K., et al. Life expectancy of persons with Down syndrome. American Journal of Mental Retardation 95, 603–612 (1991)

      Knight, A. H., & Rhind, E. G. Epilepsy and pregnancy: A study of 153 pregnancies in 59 patients. Epilepsia 16, 99–110 (1979)

      Korkko, J., et al. Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. American Journal of Medical Genetics 92, 95–100 (2000)

      March of Dimes. Chromosomal abnormalities. (2006) (accessed Aug. 28, 2008)

      Patau, K., et al. Multiple congenital anomaly caused by an extra autosome. Lancet 1, 790–793 (1960)

      Van Dyke, D. C., & Allen, M. Clinical management considerations in long-term survivors with trisomy 18. Pediatrics 85, 753–759 (1990).

      Outline | Keywords | Add Content to Group


      Share | Cancel Revoke | Cancel Keywords
      Keywords for this Article Add keywords to your Content
      Save | Cancel Flag Inappropriate
      The Content is: Objectionable
      Explicit
      Offensive
      Inaccurate
      Comments
      Flag Content | Cancel Close
      shareClose
      Digg MySpace Connotea StumbleUpon Email your Friend
      Your First Name * Your Last Name *
      Your Email Address * Your Friend’s Email address * Your Message* Submit | Cancel * Required

      CloseThis content is currently under construction.

      Close
      Explore This Topic
      Epigenetics and Disease Epigenetic Influences and Disease

      Epistasis: Gene Interaction and the Phenotypic Expression of Complex Diseases Like Alzheimer’s
      Identifiable Genetic Disease Embryo Screening and the Ethics of Human Genetic Engineering

      Birth Defects: Causes and Statistics

      Birth Defects: Prevention and Treatment

      Copy Number Variation and Genetic Disease

      Genetic Causes of Adult-Onset Disorders

      Huntington’s Disease: The Discovery of the Huntingtin Gene

      Sex-linked Diseases: The Case of Duchenne Muscular Dystrophy (DMD)

      Somatic Mosaicism and Chromosomal Disorders

      Trisomy 21 Causes Down Syndrome
      The Genetics of Microbes Antibiotic Resistance, Mutation Rates and MRSA

      Genetic Origins of Microbial Virulence

      Genetics of the Influenza Virus

      Pathogenicity: Microbial Virulence
      Tracking Disease Inheritance Complex Diseases: Research and Applications

      Gene Interaction and Disease

      Gene Mapping and Disease

      Multifactorial Inheritance and Genetic Disease

      Polygenic Inheritance and Gene Mapping
      Genetic Origin of Disease Complex Diseases: Research and Applications

      DNA Deletion and Duplication and the Associated Genetic Disorders

      Gene Interaction and Disease

      Genomic Imprinting and Patterns of Disease Inheritance

      Mendelian Genetics: Patterns of Inheritance and Single-Gene Disorders

      mtDNA and Mitochondrial Diseases

      Same Genetic Mutation, Different Genetic Disease Phenotype
      The Genetic Basis of Cancer Chromosome Abnormalities and Cancer Cytogenetics

      Genes, Smoking, and Lung Cancer

      Genetic Causes of Adult-Onset Disorders

      Genetic Diagnosis: DNA Microarrays and Cancer

      Genetic Regulation of Cancer

      Gleevec: The Breakthrough in Cancer Treatment

      Human Chromosome Translocations and Cancer

      L. H. Hartwell’s Yeast: A Model Organism for Studying Somatic Mutations and Cancer

      Proto-oncogenes to Oncogenes to Cancer

      Tumor Suppressor (TS) Genes and the Two-Hit Hypothesis
      The Study of Genetics and Disease Embryo Screening and the Ethics of Human Genetic Engineering

      Cytogenetic Methods and Disease: Flow Cytometry, CGH, and FISH

      Cytogenetic Methods in Diagnosing Genetic Disorders

      Gene-Based Therapeutic Approaches

      Genetic Diagnosis: DNA Microarrays and Cancer

      Genetic Variation and Disease: GWAS

      Genome-Wide Association Studies (GWAS) and Obesity

      Genome-Wide Association Studies and Human Disease Networks

      L. H. Hartwell’s Yeast: A Model Organism for Studying Somatic Mutations and Cancer

      Ontologies: Scientific Data Sharing Made Easy

      Personalized Medicine: Hope or Hype?

      Polygenic Inheritance and Gene Mapping

      Rare Genetic Disorders: Learning About Genetic Disease Through Gene Mapping, SNPs, and Microarray Data

      The Use of Animal Models in Studying Genetic Disease: Transgenesis and Induced Mutation

      Using SNP Data to Examine Human Phenotypic Differences
      Topic rooms within Genes and DiseaseClose
      No topic rooms are there.

      Recent Activity

      New post in Bio 2.0: Synthetic Biology Education New topic in Women in Science: International Issues for Women in Science on UN agenda New topic in Science in Africa: Two world united educational foundation

      Within this Topic (52)

      Epigenetics and Disease (2) Genetic Origin of Disease (7) Identifiable Genetic Disease (9) The Genetic Basis of Cancer (10) The Genetics of Microbes (4) The Study of Genetics and Disease (15) Tracking Disease Inheritance (5) Or Browse Visually
      Related Topics

      Genetics
      Gene Inheritance and Transmission Gene Expression and Regulation Nucleic Acid Structure and Function Chromosomes and Cytogenetics Evolutionary Genetics Population and Quantitative Genetics Genomics Genes and Disease Genetics and Society Cell Biology Cell Origins and Metabolism Proteins and Gene Expression Subcellular Compartments Cell Communication Cell Cycle and Cell Division Scientific Communication Career Planning

      People Groups

      Corine
      LauPankaj
      Alonesajida
      kanwalJustine
      ChowMike
      DempseyStefan
      DupignyThomas
      EimermacherEllen
      Francenext
      Genetics Editorial Board EvolGenius Epigenetics Brainstormin
      g RE: Scita ... Genetics Concept Invento ... NSU Genetics Genetic Century course Antisense technology View All
      Blogs

      Student Voices Creature Cast NatureEdCast Simply Science InsideEd About Scitable Watching the Detectives Labcoat Life Cognoculture Bioscience eLearning What’s New The Artful Brain Green Screen MedSci Discoveries ConferenceCast Green Science Our Science Bio 2.0
      « Prev « Prev Next » Next »

      LearnCast
      You have authorized LearnCasting of your reading list in Scitable. Do you want to LearnCast this session?
      YesNo
      This article has been posted to your Facebook page via Scitable LearnCast. Close
      Change LearnCast Settings© 2011 Nature Education
      About | Contact | Press Room | Sponsors | Terms of Use | Glossary | Library | Home | Topics | People | Groups | Learning Paths Scitable Chat


      repondre message

  • 10 March 2011 08:29, by kuol M. Deng

    This excerpt is for the writer/journalist who wrote such article on the girl who is born with deformities. Your article is okay only for information the people of South Sudan of this DNA deletion evidence.

    More so, writer should have put sufficient informations regarding DNA deletions or genetics problems, then continue putting more details on DNA decoding and other malfunctions in the gene. We the readers also want to read this article with some comments from Doctors and Minister of Health as well as scientists who misght have been contacted. Readers like to know the carrier of DNA malfunctions, father or the mother. No need to rush with incorrect informations, dumping insufficeint health deformations from scratched notes, which readers worry about what left out; as it has been left out in the writing. Good luck!

    repondre message

  • 10 March 2011 09:23, by kuol M. Deng

    DNA Denaturation, Annealing and Replication

    On the last page, you saw the general structure of DNA, learning what nucleotides look like, how they are formed into single- and double-stranded chains, and how the nucleotides form weak bonds that help hold two chains together.
    Now we’ll learn why it is that the double-strandedness of DNA is so important.


    You’ll recall that, in the center of a double-stranded DNA molecule, the ’A’ nucleotides are weakly attracted to ’T’ nucleotides, and ’G’ is attracted to ’C’. This has some critically important consequences. When two strands can pair like that, they MUST have exactly opposite and complementary chemical structures. That means:

    If those two strands are separated, they still "recognize" their opposite strand.
    If one strand is lost or damaged, it is possible to build it’s exact duplicate just by examining the remaining intact strand!

    Here are some details:
    If we heat up a tube of DNA dissolved in water, the energy of the heat can pull the two strands of DNA apart (there’s a critical temperature called the Tm at which this happens). This process is called ’denaturation’; when we’ve ’denatured’ the DNA, we have heated it to separate the strands.
    The two strands still have the same nucleotide sequences, however, so they are still complementry. If we cool the tube again, then in the course of the normal, random molecular motion they’ll eventually bump into each other ... and stick tightly, reforming double-stranded DNA. This process is called ’annealing’ or ’hybridization’, and it is very specific; only complementary strands will come together if it is done right. This process is used in many crime labs to identify specific strands of DNA in a mixture.

    Now, when we’ve denatured the two strands, there’s something else we can do - replicate the DNA. The key here is that any single-stranded piece of DNA can only hybridize with another if their sequences are complementary. If we have just one strand, we can actually build another strand to match it.
    Here’s how it’s done, either in a test tube or in a live cell:

    The DNA strands are separated (for example, by heating them in a test tube).
    For each strand, we provide a primer, which is a short piece of DNA that sticks to one end of the strand.
    An enzyme is added. This is a specific type of protein called a "DNA polymerase" that can "read" the bases on one strand and can attach the complementary base to the growing strand.
    The polymerase "walks" down the template strand and creates its exact complement as it goes.
    The same thing happens to the other original strand.
    When we started, we had one double-stranded piece of DNA. After polymerase is done, we’ve got two identical pieces - exact copies of each other.

    [sorry - page under construction, as time permits.]


    Go on to the Next Page: RNA Transcription from DNA
    Return to the top of the DNA Primer

    return to the DNA Sequencing Core’s Home Page

    repondre message

Comment on this article


 
 

The following ads are provided by Google. SudanTribune has no authority on it.


Sudan Tribune

Promote your Page too

Latest Comments & Analysis


Abyei: Peace cannot be achieved through partial solutions 2014-04-16 06:23:14 By Maiwen Dot Phoet April 15, 2014 - Over the past month, reports received from sources on the ground in Abyei confirm the withdrawal of soldiers affiliated with South Sudan’s army and police (...)

Why justice must be served to save South Sudan 2014-04-15 06:05:07 By Amb Joseph Ayok Anei April 14, 2014 - In May 1981 a Muslim called Ali Agca attempted to assassinate His Holiness Pope John Paul II. However, after his recovery, the Pope not only prayed for (...)

Will Kiir honour the Zebra (Maguar) and stay the prosecution of Pagan? 2014-04-15 05:25:56 By Dong Samuel Luak April 14, 2014 - President Kiir is well known among his comrades of intelligence and calmness, he never forgets, always forgives, but for him the year 1991 is not forgivable (...)


MORE




VIDEOS



Latest Press Releases


Letter to the South Sudanese government on the ratification of the African Charter 2014-04-16 06:24:18 Letter to the Government of South Sudan on the ratification of the African Charter H.E. Salva Kiir Mayardit President of the Republic of South Sudan Juba, South Sudan CC: Dr. Barnaba Benjamin (...)

In Sudan, at least 26,000 primary school children risk repeating an entire school year 2014-03-21 08:42:00 UNICEF SUDAN PRESS RELEASE In Sudan, at least 26,000 primary school children risk repeating an entire school year Khartoum, 20 March 2014 --- Primary school-aged children in Sudan are in (...)

Civil society groups call on AUPSC to support holistic peace in Sudan 2014-03-11 07:22:46 An Open Letter from Sudanese Civil Society Addressing the Meeting of the African Union Peace and Security Council (PSC) on the Humanitarian and Political Crises in Sudan H.E. President Thabo (...)


MORE

Copyright © 2003-2014 SudanTribune - All rights reserved.