Deletions of Chromosome 15 as a Cause of the Prader–Willi Syndrome

TLDR

Prader–Willi syndrome is characterized by muscular hypotonia, obesity, short stature, small hands and feet, hypogonadism, and mental retardation, with an unclear inheritance pattern. Hawkey and Smithies linked the syndrome to loss of the short arm of chromosome 15 through Robertsonian translocations involving D‑group chromosomes. Since the initial report, seven additional cases have been documented.

Abstract

THE Prader–Willi syndrome consists of muscular hypotonia, obesity, short stature, small hands and feet, hypogonadism, and mental retardation. Although an autosomal-recessive mode of inheritance has been suggested, the origin of the disease has been problematic. In 1976 Hawkey and Smithies described a patient with the syndrome and an abnormal karyotype showing a 15; 15 Robertsonian translocation.1 Noting similar translocations involving at least one D-group chromosome (numbers 13–15) in earlier reports on the syndrome, they suggested that loss of the short arm of chromosome 15 because of unbalanced translocation might be a specific cause of this syndrome. Since their report, seven . . .