Deletion of chromosome 15pter-->q11.2 due to t(Y;15) in a boy with Prader-Willi syndrome.
Chromosome analysis of lymphocytes from a patient with the clinical presentation of Prader-Willi syndrome showed the presence of 45 chromosomes, including a der(Y) resulting from an unbalanced t(Y;15)(q12;q11.2). In situ hybridization using DYZ3 and DYZ2 showed positive signals at the paracentromeric region on the short arm and at the heterochromatic region of the long arm of the Y chromosome, respectively. The Prader-Willi syndrome in this patient is caused by the deficiency of a very small region involving 15cen-->q11.2.
Qumsiyeh
M B
MB
Department of Pediatrics, University of Tennessee, Memphis 38163.
Dalton
J D
JD
Gordon
P L
PL
Wilroy
R S
RS
Tharapel
A T
AT
D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D015342:DNA Probes; D006801:Humans; D017403:In Situ Hybridization; D008297:Male; D011218:Prader-Willi Syndrome / Q000235:genetics*; D014178:Translocation, Genetic; D014998:Y Chromosome
D015342:DNA Probes