Prader-Willi syndrome and Robertsonian translocations involving chromosome 15.
A case of Prader-Willi syndrome is presented in which high resolution chromosome analysis revealed not only a familial Robertsonian translocation [t(13q15q)], but also a del(15) (q11.2q13) of the chromosome 15 not involved in the translocation. While there have been numerous reports of Robertsonian translocations involving chromosome 15 in patients with Prader-Willi syndrome, in this case, the Robertsonian translocation was shown to be unrelated to the clinical findings.
Casamassima
A C
AC
Department of Pediatrics, New York Medical College, Valhalla.
Shapiro
L R
LR
Wilmot
P L
PL
Smith
K B
KB
D000328:Adult; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D002884:Chromosomes, Human, Pair 15; D006801:Humans; D007621:Karyotyping; D008297:Male; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*