Resource Center: genetic abnormalities, misc information materials
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Description:
This page provides extensive information Myotonic Muscular Dystrophy and includes images associated with the disorder.
Source:
The Muscular Dystrophy Association (MDA)
Description:
In August 2002, Myriad launched an enhancement to the BRACAnalysis test to detect five common large rearrangements. The BRACAnalysis Rearrangement Test, or BART, launched in August 2006, is designed to detect large rearrangements beyond these five. For patients who meet the defined clinical criteria, BART will automatically be performed concurrently with the sequence analysis of Comprehensive BRACAnalysis®.
Source:
Myriad Genetics Laboratory
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Description:
This web page provides a summary of the characteristics of Huntington Disease, as well information on the genetic testing used to diagnose the disease.
Source:
National Center for Biotechnology Information (NCBI), National Institutes of Health (NIH) Punnett Squares for X-Linked Recessive Conditions
Description:
Below are sample Punnett squares for X-linked recessive conditions. The disease-causing mutation is denoted by the lower case letter a. The normal gene is denoted by the capital letter A. 
The Punnett square to the left is representative of possible reproductive outcomes should a female with an
Punnett Squares for Autosomal Recessive Conditions
Description:
Below are sample Punnett squares for autosomal recessive conditions. The disease-causing mutation is denoted by the lower case letter a. The normal gene is denoted by the capital letter A . 
The Punnett square to the left is representative of possible reproductive outcomes should
Punnett Squares for Autosomal Dominant Conditions
Description:
Punnett squares are often used to predict reproductive outcomes for parents with an increased risk for having children with genetic disease. Along the top of the square are 2 egg cells from the mother. In each egg cell is 1 member of a homologous chromosome pair. The pair has previously separated from one another during meiosis. Along the left side of the square are 2 sperm cells from the father. In each sperm cell is 1 member of a homologous chromosome pair that also separated during meiosis.
Below are sample Punnett squares for autosomal dominant conditions. The disease-causing mutation is denoted by the capital letter A. The normal gene is denoted by the lower case letter a.
Gene Mutations
Description:
This page provides information and diagrams on four main categories of gene mutations: Point Mutations, Deletions/duplications, Insertions, and Trinucleotide expansions. I. Point Mutations
Description:
Deletion of the distal segment of the short arm of the 8th chromosome was first reported in 1973. Subsequent to this, 14 additional cases of 8p- syndrome have been described in the literature1-3. The clinical features have been reviewed by Pecile et al. In the postnatal period, the 8p- syndrome is characterized by growth delay, mental retardation, abnormal facies, and congenital heart disease.
The present report describes a fetus in whom the prenatal diagnosis of 8p- syndrome was made.
Source:
Clin Genet
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Description:
Discussess 8p- and provides links to organizations related to Chromosome 8, Monosomy 8p.
Source:
National Organization for Rare Disorders
Description:
This sectoin of the AAFP's website offers information on policy and advocacy, with sections on health care reform, learning how to lobby, speaking out for family medicine, and learning more about the patient-centered medical home. There is also a section of PDF copies of weekly summaries of legislative news from the AAFP's Government Affairs office in Washington, D.C. to help you stay current with the Washington Update.
Source:
American Academy of Family Physicians 
