[Cytogenetic and clinical aspects of Prader-Willi syndrome].
Two male nonconsanguineous cases (aged 4 years) of Prader-Willi syndrome are clinically and cytologically studied. Both had obesity, marked hypogonadism, reduced head circumference, psychomotor impairment, hypotonia, tooth decay, small hands and feet, immature EEG. Case 1 showed a "de novo" translocation 7;15 and case 2 showed a normal karyotype. According to various authors, many cases of Prader-Willi syndrome show the presence of a translocation of chromosome 15 onto an autosome or X chromosome. This is the first observation of chromosome 7 involvement in this translocation.
D002648:Child; D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15; D002897:Chromosomes, Human, Pair 7; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D014178:Translocation, Genetic
Contributo alla conoscenza degli aspetti citogenetici e clinici della sindrome di Prader-Willi.