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Sex-linked dominant transmission
12%
122/987
Y-linked dominant transmission
2%
16/987
X-linked dominant transmission
10%
96/987
Genomic imprinting
70%
694/987
Mendelian inheritance
5%
53/987
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Definition of genetic imprinting: the allele that is expressed is determined solely on which parent contributes it. In Angelman syndrome the defective gene comes from the mother, leading to epilepsy, tremors, and smiling facies. In Prader-Willi syndrome the defective gene comes from the father resulting in hypotonia, obesity, hypogonadism. These are classic examples of genetic imprinting in humans. Usually, diseases resulting from defective structural proteins are autosomal dominant, while defective enzymes are autosomal recessive.
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