Resource Center: abnormalities
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Description:
Provides data on the prevalence of birth defects and various genetic conditions. Additionally, it includes information on international prevalence and includes resources on the lifetime cost of care for certain conditions.
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University of Kansas Medical Center
Description:
This guideline escribes the evaluation and management of newborns with one or more malformations.
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New York Department of Health
Description:
This web page provides detailed information about amniotic band syndrome, including a brief description of ABS, causes, incidence, diagnosis, interventions, and treatment.
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Fetal Care Center of Cincinnati
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Description:
Fanconi anemia is an autosomal recessive disorder affecting all bone marrow elements and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes.
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Online Mendelian Inheritance in Men
Description:
A journal article about the BRCA 2 Gene. The article details cloning, gene structure, mapping, gene function, role in DNA repair, and molecular genetics.
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Online Mendelian Inheritance in Men
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Description:
The Arc is the world’s largest community based organization of and for people with intellectual and developmental disabilities. It provides an array of services and support for families and individuals and includes over 140,000 members affiliated through more than 730 state and local chapters across the nation. The Arc is devoted to promoting and improving supports and services for all people with intellectual and developmental disabilities.
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The Arc of the United States
Description:
This article provides information on the disease characteristics of FMR1-related disorders including fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian failure (POF).
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University of Washington
Description:
This article describes the disease characteristics of dystrophinopathies, which include Duchenne/Becker muscular dystrophy.
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University of Washington Translocations
Description:
A description and pictorial representation of chormosomal translocations. Translocations occur when a piece of a chromosome breaks off and becomes attached to another chromosome. Two categories of translocations exist: reciprocal and Robertsonian translocations.
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Isochromes
Description:
A description and pictorial description of missing chrosomonal isochromes.
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