An 8-year-old boy was evaluated for mental retardation. Additional findings included microcephaly, ataxic gait, epilepsy, and inability to talk. The boy had a happy expression on his face
Chromosomal studies revealed deletion of q11–13 of chromosome 15 . Neither of his parents and none of his siblings showed similar signs of the disease. This disease is an example of
A. autosomal dominant inheritance
B. autosomal recessive inheritance
C. x-linked dominant inheritance
D. genetic imprinting
E. mitochondrial inheritance
D
This child has Angelman's syndrome, a disease representing the best example of genetic imprinting. In Angelman's syndrome the deletion on chromosome 15 is of maternal origin, whereas in the closely related Prader-Willi syndrome the defect is of paternal origin.
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