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         Down Syndrome Genetic Disorder:     more books (17)
  1. Molecular Genetics of Chromosome 21 and Down Syndrome: Proceedings of the Sixth Annual National Down Syndrome Society Symposium, Held in New York, New (Progress in Clinical & Biological Research) by National Down Syndrome Society, 1990-01
  2. Speech & Language Development & Intervention in Down Syndrome & Fragile X Syndrome (Communication and Language Intervention Series)
  3. Down syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Paul Johnson, 2005
  4. The Phenotypic Mapping of Down Syndrome and Other Aneuploid Conditions: Proceedings of the National Down Syndome Society Conference Held in New York (Progress ... Clinical and Biological Research, Vol 384) by National Down Syndrome Society (U. S.), 1993-10
  5. Adolescents With Down Syndrome: Toward a More Fulfilling Life
  6. Prenatal ultrasound: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Sonja, MS, CGC Eubanks, 2005
  7. Down Syndrome: A Review of Current Knowledge by Jean-Adolphe, PhD Rondal, Juan Perera, et all 1999-03-31
  8. The Morphogenesis of Down Syndrome: Proceedings of the National Down Syndrome Society Conference on Morphogenesis and Down Syndrome, Held in New York (Progress in Clinical and Biological Research) by National Down Syndrome Society Conference on Morphogenesis and Down sy, 1991-08
  9. Birth defects: An entry from Thomson Gale's <i>Gale Encyclopedia of Science, 3rd ed.</i> by Larry Blaser, 2004
  10. The Molecular Biology of Down Syndrome (Journal of Neural Transmission. Supplementa)
  11. Down Syndrome: Advances in Medical Care (Advances in Membrane Fluidity Series) by Ira T. Lott, 1992-09
  12. Down Syndrome: Visions for the 21st Century
  13. Genetic Disorders Sourcebook: Basic Consumer Health Information About Hereditary Diseases and Disorders, Including Cystic Fibrosis, Down Syndrome, Hemophilia, ... Disease (Health Reference Series)
  14. Down Syndrome: the Facts by Mark Selikowitz, 1997-01-15

81. Genome.gov | Genetics FAQ
genetic disorders can be passed on to family members who inherit the genetic For example, down syndrome is caused by an extra copy of a chromosome,
http://www.genome.gov/10001191
triggerParms["cpp_5"] = "Referer:"+ cppUrlPatch (""); // Optional Home About NHGRI Newsroom Staff ...
Issues in Genetics and Health

In Other Sections:
Talking Glossary of Genetic Terms

Clinical Research

Home
Health Genetics FAQ
Genetics FAQ
What are genetic disorders? How do I find more information about a specific disorder or learn whether a particular disease has a genetic component? What is genetic testing? What information can genetic testing provide? ... What are genetics researchers studying and how can it help people with genetic disorders?
What are genetic disorders?
A genetic disorder is a disease caused in whole or in part by a "variation" (an unusual form) or "mutation" (alteration) of a gene. Genetic disorders can be passed on to family members who inherit the genetic abnormality. A small number of rare disorders are caused by a mistake in a single gene. But most disorders involving genetic factors - such as heart disease and most cancers - arise from a complex interplay of multiple genetic changes and environmental influences. Geneticists group genetic disorders into three categories:
  • Single gene disorders caused by a mistake in a single gene. The mutation may be present on one or both chromosomes of a pair. Sickle cell disease, cystic fibrosis and Tay-Sachs disease are examples of single gene disorders.

82. © The Centre For Genetics Education
Newborn Screening for genetic Disorders. genetic Testing and Screening Today the condition is more appropriately referred to as down syndrome or trisomy
http://www.genetics.com.au/factsheet/27.htm
Genes and Chromosomes Changes to the Genetic Code When Genes are Faulty - Mutations Genetic Conditions Genetic Counselling Autosomal Recessive Inheritance Autosomal Dominant Inheritance X-Linked Inheritance X-Inactivation Genetics and the Evironment - Multifactorial Inheritance Mitochondrial Inheritance Changes in Chromosomes - Number or Size Changes in Chromosomes - Translocations Genetic Imprinting Prenatal Testing Preimplantation Genetic Diagnosis Prevention of a Genetic Condition - Folate Before Pregnancy Newborn Screening for Genetic Disorders Genetic Testing and Screening - Medical Applications Genetic Testing and Screening - Forensic and Other Applications Ethical Issues in Human Genetics The Human Genome Project Pharmacogenetics Cloning Gene Therapy When Parents are Related - Consanguinity Trisomy 21 - Down Syndrome Trisomy 13 Trisomy 18 Klinefelter Syndrome Turner Syndrome Fragile X Syndrome Cystic Fibrosis Thalassaemia Tay-Sachs Disease Haemochromatosis Huntington Disease Haemophilia Muscular Dystrophy - Duchenne and Becker Neurofibromatosis Type I Neurofibromatosis Type II Familial Hypercholesterolaemia and Cardiovascular Disease Short Stature and Other Skeletal Dysplasias Genetics and Cancer Breast and Ovarian Cancer - Genetic Aspects Bowel Cancer - Genetic Aspects Melanoma - Genetic Aspects Cardiac Disease - Genetic Aspects Diabetes Type 1 and Type 2 - Genetic Aspects Mental Illness - Schizophrenia and Manic Depression - Genetic Aspects Alzheimer Disease - Genetic Aspects Neural Tube Defects - Spina Bifida and Anencephaly

83. Challenges Face Children With Congenital And Genetic Disorders
down syndrome, autism, and hemophilia are genetic disorders. Cerebral palsy is a group of disorders with similar problems where a primary symptom is
http://www.morefocus.com/health/child_health/congenital_genetic/
the Web moreFocus Updated: 06:20 PM PDT (-7 GMT) September 20,2005 Home Page Lifestyle Culture Living ... Research Help Tips Tips for Searching
You Are Here: Home Health Children's Health Congenital Diseases
Congenital Diseases Challenges Face Children with Congenital and Genetic Disorders The term "congenital disorder" refers to conditions present at birth as a result of either heredity or environmental influences. Cerebral palsy, in some forms, is congenital. Genetic disorders are inherited and are frequently the result of an abnormal gene leading to an enzyme or protein defect. Down syndrome, autism, and hemophilia are genetic disorders. Cerebral palsy is a group of disorders with similar problems where a primary symptom is difficulty controlling movement. The brain damage that causes CP can occur in the womb or during the birthing process (congenital CP) or during the first few years of life (acquired CP). Acquired CP accounts for only ten to twenty percent of cases. The vast majority of cases are congenital, with about twenty percent due to brain injury during birth. Some seventy percent of congenital cerebral palsy is due to brain damage during intra-uterine life, and the majority of time the cause is unknown . Down syndrome is the genetic condition resulting when a baby is born with three copies of chromosome 21, rather than the usual two. Because there are three copies of this chromosome, Down syndrome is also called

84. Health Supervision For Children With Down Syndrome -- Committee On Genetics 107
In approximately 95% of children with down syndrome, the condition is because of Diagnosis and treatment of genetic disorders are changing rapidly.
http://aappolicy.aappublications.org/cgi/content/full/pediatrics;107/2/442

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PubMed PubMed Citation This Article has been cited by: other online articles Download to Citation Manager PEDIATRICS Vol. 107 No. 2 February 2001, pp. 442-449
AMERICAN ACADEMY OF PEDIATRICS:
Health Supervision for Children With Down Syndrome
Committee on Genetics
ABSTRACT Top
Abstract
References These guidelines are designed to assist the pediatrician in caring for the child in whom the diagnosis of Down syndrome has been confirmed by karyotype. Although the pediatrician's initial contact with the child is usually during infancy, occasionally the pregnant woman who has been given the prenatal diagnosis of Down syndrome will be referred for counseling. Therefore, these guidelines offer advice for this situation as well. Children with Down syndrome have multiple malformations and mental impairment because of the presence of extra genetic material from chromosome 21. Although the phenotype is variable, usually

85. Genetic Disorders Forum - Down Syndrome Information
down syndrome, down syndrome Information, genetic Disorders Forum , health forums, medical questions, medical information, medical symptoms,
http://ehealthforum.com/health/subject80_210336_what.html

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Down Syndrome : Information
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86. Advisory: Guidelines On Genetic Disorders & Birth Defects Launched On 6 August
The aim of the guidelines is to reduce the burden of genetic disorders and and include down syndrome, neural tube defects, foetal alcohol syndrome,
http://www.info.gov.za/speeches/2001/010807945a1004.htm
Home The Minister of Health, Dr Manto Tshabalala-Msimang, will open the first international conference on Birth Defects and Disabilities in the Developing World in Sandton tomorrow. At the conference, the Minister will also launch South Africa's first policy guidelines for the Management and Prevention of Genetic Disorders, Birth Defects and Disabilities. It is estimated that in South Africa, 1 in every 40 babies has one or another birth defect, and over 150 000 children born annually are affected by a significant genetic defect by the age of five, requiring medical and supporting interventions. The health burden of congenital disorders can be greatly reduced by using approaches for primary prevention, cure when possible, and supportive management when not possible. "The aim of the guidelines is to reduce the burden of genetic disorders and birth defects on individuals, families and society in general. They will also help to empower individuals with genetic disorders and their families to live and reproduce as normally and responsibly as possible. Having this policy will also help stimulate awareness of the psycho-social and fiscal impact of genetic disorders and defects," said Dr Eddie Mhlanga, head of maternal, child and women's health at the Department of Health. Managing such conditions includes diagnosis and providing the individual or family with genetic counselling, psychosocial support, and the best possible medical treatment. Primary health care management includes prevention of disease complications such as eye and skin care for people with albinism, mental stimulation for children with Down syndrome, and providing psychosocial support to affected individuals and their families.

87. Health Supervision For Children With Down Syndrome.
Confirm the diagnosis of down syndrome and review the karyotype with the parents. Diagnosis and treatment of genetic disorders are changing rapidly.
http://www.guideline.gov/summary/summary.aspx?ss=15&doc_id=2778&nbr=2004

88. MSRGSNet/Genetic Drift/Management Of Common Genetic Disorders
Management of Common genetic Disorders. Individuals with down syndrome have characteristic facies and typical minor anomalies.
http://www.mostgene.org/gd/gdvol16c.htm
Previous Section This Issue- Table of Contents Next Section Management of Common Genetic Disorders
Vol. 16: Summer, 1998
Down Syndrome / Trisomy 21
  • Introduction Trisomy 21 is the most common autosomal chromosome abnormality with an incidence of 1/800 live births. It occurs in all ethnic groups. Ninety-five percent are due to meiotic non-disjunction. Most of the time the extra chromosome is of maternal origin and the risk increases with increasing maternal age. A translocation is seen in 3-4% of cases, about half of which are de novo and half familial. Mosaicism is seen in 1-2% of children and the clinical picture correlates somewhat with the percentage of normal cells. The recurrence risk depends upon the etiology. In cases with non-disjunction and de novo translocations, the risk is about 1% plus the maternal age risk. Familial 21/21 translocations have a 100% recurrence risk. Other translocations have a lower recurrence risk with a 2-5% risk if the carrier is the father and a 10-15% risk if the mother is the carrier.
  • Clinical Features Individuals with Down syndrome have characteristic facies and typical minor anomalies. Most striking in the newborn are the upslanting palpebral fissures, protruding tongue, abnormal palmar creases, and hypotonia. Once the diagnosis is suspected, it should be confirmed by a chromosomal analysis on cultured lymphocytes.

89. MoSt GeNe/Genetic Drift/Management Of Common Genetic Disorders
Management of Common genetic disorders. Marfan syndrome is an autosomal dominant, highly penetrant, disorder of connective tissue with extremely
http://www.mostgene.org/gd/gdvol16e.htm
Previous Section This Issue- Table of Contents Next Section Management of Common Genetic Disorders
Vol. 16: Summer, 1998
Marfan Syndrome
  • Introduction Marfan syndrome is an autosomal dominant, highly penetrant, disorder of connective tissue with extremely variable clinical expression. The frequency is 1 to 10 per 100,000 live births. About 15% of individuals with Marfan syndrome have new mutations; the rest are familial. It is caused by a defect in the fibrillin-1 gene (FBN1) on chromosome 15. Many different mutations of FBN1 have been identified, which may contribute to the variability seen in the disorder. Currently, no single gene probe or group of probes can detect most FBN1 mutations. Sequencing the entire gene for mutations is tedious, and often detects mutations that may represent normal variation, resulting in both false positives and false negatives. Immunohistological evaluation of skin for abnormal fibrillin has been reported but is not widely available. For now, diagnosis of Marfan syndrome remains a clinical one.
  • Clinical Features Marfan syndrome typically affects three major body systems: cardiovascular, skeletal, and ocular. Lungs and/or skin may also be involved.

90. National Down Syndrome Society: News And Events: Science & Research News
They also can tell whether a fetus has chromosome disorders such as down syndrome or genetic disorders such as cystic fibrosis.
http://www.ndss.org/content.cfm?fuseaction=NwsEvt.Article&article=1195

91. Children's Mercy Hospitals And Clinics
We work as a team to care for children and adults with genetic disorders, mental retardation and Medical genetics Outreach Clinic down syndrome Clinic
http://www.childrens-mercy.org/genetics/default.htm
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Pediatrics/Medical Genetics at Children's, Kansas City
The Pediatric Medical Genetics What is the role of Pediatrics/Medical Genetics at Children's?
Why is Medical Genetics important to Pediatrics?

Medical Genetics studies the causes of human biologic variation by all methods of human genetics, teratology and medicine. We welcome referrals of both children and adults, generally providing the entire family with genetic counsultation. Our pediatric medical genetics counselors and pediatric clinical geneticists provide patients and their families with diagnosis, treatment, management and information about the prevention of genetic and congenital disorders. We work as a team to care for children and adults with genetic disorders, mental retardation and developmental disabilities. See the following for more information and newsletters on the most common diagnoses that require Medical Genetics care:

92. GENETIC DISORDERS
Marfan s syndrome. This is a heterogeneous group of genetic disorders with The syndrome is almost as common as down s; around 1 guy in 1500 has it.
http://www.pathguy.com/lectures/genes.htm
GENETIC DISORDERS
Ed Friedlander, M.D., Pathologist
scalpel_blade@yahoo.com

Cyberfriends: The help you're looking for is probably here. Welcome to Ed's Pathology Notes, placed here originally for the convenience of medical students at my school. You need to check the accuracy of any information, from any source, against other credible sources. I cannot diagnose or treat over the web, I cannot comment on the health care you have already received, and these notes cannot substitute for your own doctor's care. I am good at helping people find resources and answers. If you need me, send me an E-mail at scalpel_blade@yahoo.com Your confidentiality is completely respected. DoctorGeorge.com is a larger, full-time service. There is also a fee site at myphysicians.com , and another at www.afraidtoask.com Translate this page automatically With one of four large boxes of "Pathguy" replies. I'm still doing my best to answer everybody. Sometimes I get backlogged, sometimes my E-mail crashes, and sometimes my literature search software crashes. If you've not heard from me in a week, post me again. I send my most challenging questions to the medical student pathology interest group, minus the name, but with your E-mail where you can receive a reply. Slice of Life videodisk. No medical student should be without access to this wonderful resource. Someday you may be able to access these pictures directly from this page.

93. Medical Problems Associated With Down Syndrome
It is quite common for children with genetic disorders such as down syndrome There are other malabsorption disorders but children with down syndrome are
http://www.downsyn.com/whatmed.html

    Home
    Questions To A Parent About Us ... Site Map What are the Medical Problems Associated with Down Syndrome? Although babies with Down syndrome can be just as healthy as any other children, they can also have special medical problems. Even though some of these problems can be quite serious, the good news is that medical treatments have improved substantially, and the vast majority of babies with Down syndrome grow up healthy and active. Chaira Kozma M.D., Babies with Down Syndrome - Edited by Karen Stray-Gundersen Will my baby have medical problems?
    Children with Down syndrome are at an increased risk for a wide range of medical problems. These potential problems include congenital heart defects, increased susceptibility to infection, respiratory problems, gastrointestinal disorders, and childhood leukemia. However, not every baby with Down syndrome develops health problems and most of these health problems are now treatable. What are congenital heart defects?
    A congenital heart defect is a heart problem that is present at birth. Between 30 and 45 percent of babies with Down syndrome are born with heart defects. These defects vary from mild defects which may disappear with time to severe defects which will require major surgery. In most cases a cardiologist can detect a heart defect soon after birth. The most common congenital heart defect is Atrioventricular (AV) septal defect. This problem occurs when the valves separating the atrium (upper chamber of the heart) from the ventricle (lower chamber of the heart) leak allowing blood to flow in the wrong direction. This problem is quite serious but can corrected with surgery in infancy. The second most common problem is a hole in the wall of either the ventricles (Ventricular Septal Defect or VSD) or between the atrium (Atrial Septal Defect or ASD). Small holes do not cause any strain on the baby and often close by themselves. Larger holes may require surgery.

94. MedlinePlus: Genetic Disorders
down syndrome • Fragile X syndrome • genetic Counseling Women; genetic Disorders in Pregnancy (American College of Obstetricians and Gynecologists)
http://www.nlm.nih.gov/medlineplus/geneticdisorders.html
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95. Arch Dermatol -- Topic Collections : Genetic Disorders
Papular Eruption on a Patient With down syndrome—Quiz Case Claire L. MartynSimmons; Show genetic Disorders collections from JAMA Archives Journals.
http://archderm.ama-assn.org/cgi/collection/genetic_disorders
Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress
Genetic Disorders
Citations 1-10 of 59 total displayed. Most recent content (1 Aug 2005):
Correspondence
Children With Red Hair Have More Freckles but Fewer Melanocytic Nevi: Results From a Cohort Study of 280 Three-Year-Olds
Robert P. Dellavalle; Kathryn R. Johnson; Eric J. Hester; Ann M. Deas; Stefan Mokrohisky; Joseph G. Morelli; Lori A. Crane
Arch Dermatol 2005; 141: 1042-1043. [Extract] [Full text] [PDF]
Past content (since Feb 1998):
Observations
Aquagenic Wrinkling of the Palms in Patients With Cystic Fibrosis Homozygous for the CFTR Mutation
Kenneth A. Katz; Albert C. Yan; Maria L. Turner
Arch Dermatol 2005; 141: 621-624. [Abstract] [Full text] [PDF]
Studies
Clinical Features of Multiple Cutaneous and Uterine Leiomyomatosis: An Underdiagnosed Tumor Syndrome
N. Afrina Alam; Ella Barclay; Andrew J. Rowan; Jonathan P. Tyrer; Eduardo Calonje; Sanjiv Manek; David Kelsell; Irene Leigh; Simon Olpin; Ian P. M. Tomlinson

96. Genetic Causes Of Mental Retardation
genetic disorders are typically broken down into three types Chromosomal, Examples of chromosomal disorders include down syndrome, Trisomy 13,
http://specialed.freeyellow.com/YAdaptUse.html
GENETIC CAUSES OF MENTAL RETARDATION
What is genetics? Genetics is "the science that studies the principles and mechanics of heredity, or the means by which traits are passed from parents to offspring" (Glanze, 1996). Through genetics a number of specific disorders have been identified as being genetically caused. One example is fragile X syndrome, a common genetic cause of mental retardation, which is caused by the presence of a single non-working gene (called the FMR-1 gene) on a child's X chromosome. Genetics originated in the mid-19th century when Gregor Mendel discovered over a ten year period of experimenting with pea plants that certain traits are inherited. His discoveries provided the foundation for the science of genetics. Mendel's findings continue to spur the work and hopes of scientists to uncover the mystery behind how our genes work and what they can reveal to us about the possibility of having certain diseases and conditions. The scientific field of genetics can help families affected by genetic disorders to have a better understanding about heredity, what causes various genetic disorders to occur, and what possible prevention strategies can be used to decrease the incidence of genetic disorders. Can a person's genes cause mental retardation?

97. Down Syndrome Email Lists, Newsgroups And Bulletin Boards
A list for parents of children with down syndrome to brag, delays and sensory integration problems, to cerebral palsy, to rare genetic disorders.
http://www.ds-health.com/lists.htm
Last Updated:
Sept 8, 2005
Down Syndrome Email Lists, Newsgroups and Bulletin Boards
Compiled by Dr. Len Leshin
MAILING LISTS / NEWSGROUPS
Down-Syn Listserv / Newsgroup
The granddaddy of them all. Begun by Bill McGarry and is often referred to as "The List" or "The Listserv." You may subscribe to this e-mail list by sending Email to: listserv@listserv.nodak.edu The nodak.edu listserv also doubles as the Usenet newsgroup "bit.listserv.down-syn." You need a program that connects up to Usenet newsgroups to read it.
Archives are available at: http://listserv.nodak.edu/archives/down-syn.html
Upsndowns List
The second mailing list is called the "upsndowns" list and is run by Tim and Cindy Casten. You must be a subscriber to read and post messages. This list is not accessible through newsgroups.
This list is now run through Yahoo groups. To subscribe, first register at http://groups.yahoo.com . Then sign up for the list at http://groups.yahoo.com/group/UpsNDowns . If you have trouble subscribing, contact Cindy Casten at cindysue@upsndowns.org

98. Glossary Of Genetic Disorders.
to Information on the Internet about genetic Disorders and Birth Defects The most common aneuploid numbers are 45 (Turner syndrome) and 47 (down
http://aspin.asu.edu/geneinfo/glos-a.htm
The GAPS INDEX
to Information on the Internet about Genetic Disorders and Birth Defects

Genetic Information and Patient Services, Inc. (GAPS)
HOME
DISORDERS GLOSSARY (A New Quick TUTORIAL - "How to Translate Medical Terms into Understandable English") Glossary of words beginning with the letter A
Abduction
Away from the body
Aberration
An anomaly- a change from the normal or ordinary
Albepharia
Absence or reduced size of eyelids at birth.
Abnormality
A change from the normal or ordinary.
Absent
Not present- missing or not existing
ABR
Auditory Brainstem Response see BAER
Acetabulum
The socket in the hip into which the head of the femur (thigh bone) fits.
Acetone
A chemical formed in the blood when the body uses fat instead of glucose (sugar) for energy. If acetone forms, it usually means that the cells do not have enough insulin, or cannot use the insulin that is in the blood, to use glucose for energy. Acetone passes through the body into the urine. Someone with a lot of acetone in the body can have breath that smells fruity and is called "acetone breath." See also: Ketone bodies.
Acholasia of esophagus
inability to relax muscles of the upper digestive tract, specifically where the esophagus enters the stomach

99. WHO EMRO - NON COMMUNICABLE DISEASES
Chromosomal aberrations in children with suspected genetic disorders; Chromosomal aberrations in Mosaic down syndrome. 1. 47, XX, +18. Edwards syndrome
http://www.emro.who.int/ncd/Genetics-egy-97.htm
Non-Communicable Diseases
World Health Organization
Regional Office for the Eastern Mediterranean
Cancer
Cardiovascular Diabetes Osteoporosis ... Chronic diseases
Genetic diseases Egypt Chromosomal aberrations in children with suspected genetic disorders; Chromosomal aberrations in children with suspected genetic disorders

Mokhtar, MM; EMHJ; 3: 1, 1997, 114-122 ABSTRACT; Karyotyping was done in 137 children suspected of having chromosomal abnormalities such as genetically uncertain syndromes, multiple congenital anomalies, short stature, dysmorphic features, unclassified mental retardation and Down syndrome. A total of 53 (38.7%) had an abnormal karyotype: trisomy 21 (36; 26.3%), trisomy 18 (3; 2.2%), trisomy 13 (1; 0.7%), partial autosomal aneuploidy (5; 3.6%), pericentric inversion of chromosome 9 (2; 1.5%), marker chromosome (2; 1.5%), and sex chromosome aberrations (4; 2.9%). All of them showed phenotypic-cytogenetic heterogeneity. These findings suggest that cytogenetic analysis is useful in the investigation of children with genetic disorders of unknown origin to confirm clinical diagnosis and to allow for proper genetic counseling. Table 1, Genetic disorders in patients referred for cytogenetic studies

100. Science -- Sign In
Manipulating mice to model human genetic disorders has become routine since the down syndrome, or trisomy 21, is the most common genetic cause of mental
http://www.sciencemag.org/cgi/content/full/sci;306/5696/619
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