A new case of rearrangement of chromosome 15 associated with Prader Willi syndrome.
A male child with Prader Willi syndrome and a de novo 9p/15q translocation is described. A review of the literature showed that a translocation involving 15q has been described in seven cases of this syndrome. The possible relationship between Prader Willi syndrome and breakage of chromosome no. 15 in qll region is discussed.
D002675:Child, Preschool; D002871:Chromosome Banding; D002901:Chromosomes, Human, 13-15; D002906:Chromosomes, Human, 6-12 and X; D006801:Humans; D008297:Male; D011218:Prader-Willi Syndrome / Q000235:genetics*; D014178:Translocation, Genetic