Pathophysiology
1) congenital gene abnormality considered to be an “imprinting” disorder 2) patients inherit two copies of paternal chromosome 15 with a deletion in the short arm (15q12)
Signs and Symptoms
1) obesity 2) hyperphagia 3) skin picking 4) labile moods 5) mental retardation 6) hypogonadism 7) short stature 8) hypotonia 9) small hands and feet 10) fish-shaped mouth 11) almond-shaped eyes 12) adult-onset diabetes
Associated Conditions
Angelman’s syndrome – 1) two maternal copies of chromosome 15 with a deletion in the short arm (15q12) 2) ataxic gait 3) severe mental retardation 4) microcephaly 5) inappropriate laughter
Inheritance/Epidemiology
occurs in 1/10,000-20,000 births
Tips for USMLE
classic triad – obesity, hypogonadism, and mental retardation
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