Atypical phenotype associated with deletion (15) (pter----q11::q13----qter).
We report on a 10-year-old boy with an interstitial deletion within the region of bands 15q11----q13. Authors have associated the manifestation of the Prader-Willi syndrome (PWS) with variable deletions involving the bands q11----q13. Our patient had atypical manifestations not usually associated with PWS, ie, normal stature, proportionally sized hands and feet, normal genitalia, and was nonambulatory and severely mentally retarded. This case emphasized the clinical diversity seen in proximal 15q deletions in the region considered to be correlated with the PWS.
Reynolds
J F
JF
Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana 59604.
Daniel
A
A
FitzGerald
J
J
D002648:Child; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000648:ultrastructure*; D014644:Genetic Variation; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000145:classification / Q000473:pathology*