The gene causing Coffin–Lowry syndrome (OMIM 303600) was recently identified and mapped on the human X chromosome. Coffin–Lowry syndrome is a rare disorder affecting brain morphology and development. It also produces skeletal and growth abnormalities, as well as abnormalities of motor control. Coffin–Lowry syndrome affects males who inherit a mutation of the X-linked gene. Most carrier females show no symptoms of the disease but a few carriers do. These carrier females are always less severely affected than males. Offer an explanation for this finding.

For each pedigree shown,

Identify which simple pattern of hereditary transmission (autosomal dominant, autosomal recessive, X-linked dominant, or X-linked recessive) is most likely to have occurred. Give genotypes for individuals involved in transmitting the trait.
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Key Concepts
Pedigree Analysis
Patterns of Inheritance
Genotype and Phenotype
Four eye-color mutants in Drosophila—apricot, brown, carnation, and purple—are inherited as recessive traits. Red is the dominant wild-type color of fruit-fly eyes. Eight crosses (A through H) are made between parents from pure-breeding lines.
Which of these eye-color mutants are X-linked recessive and which are autosomal recessive? Explain how you distinguish X-linked from autosomal heredity.
Four eye-color mutants in Drosophila—apricot, brown, carnation, and purple—are inherited as recessive traits. Red is the dominant wild-type color of fruit-fly eyes. Eight crosses (A through H) are made between parents from pure-breeding lines.
Predict F2 phenotype ratios of crosses A, B, D, and G.
For each pedigree shown,
Determine which other pattern(s) of transmission is/are possible. For each possible mode of transmission, specify the genotypes necessary for transmission to occur.
For each pedigree shown,
Identify which pattern(s) of transmission is/are impossible. Specify why transmission is impossible.
Use the blank pedigrees provided to depict transmission of
(a) an X-linked recessive trait and
(b) an X-linked dominant trait, by filling in circles and squares to represent individuals with the trait of interest. Give genotypes for each person in each pedigree.
Carefully design each transmission pattern so that pedigree
(a) cannot be confused with autosomal recessive transmission and pedigree
(b) cannot be confused with autosomal dominant transmission. Identify the transmission events that eliminate the possibility of autosomal transmission for each pedigree.
