Resource Center: chromosomes
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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.
Isochromes
Description:
A description and pictorial description of missing chrosomonal isochromes.
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Complex Chromosome Rearrangements
Description:
A description and pictorial depiction of complex chromosome rearrangements Complex Chromosome Rearrangement
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Chromosomal Deletions
Description:
A description and pictorial depiction of chromosomal deletions. 
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Duplications
Description:
A description and pictorial depiction of chromosomal duplications. Chromosome Duplication
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Pedigree Clues
Description:
Pedigree Clues Autosomal Dominant
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:
This article provides information about the prevalence, diagnosis, clinical presentation, ant treatment of Patau Syndrome (trisomy 13).
Source:
Robert G Best, PhD, FACMG
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