Interstitial 15q deletion without a classic Prader-Willi phenotype.
We report on a newborn boy with pronounced hypotonia, cryptorchidism, minor facial anomalies, congenital heart defect, neurologic anomaly, deafness, renal anomaly, and bifid uvula. The patient has a de novo proximal interstitial deletion of chromosome 15 reaching to band q14, larger than that usually seen in Prader-Willi and Angelman syndromes.
Galán
F
F
Departamento de Pediatría, Universidad de Alicante, Spain.
Aguilar
M S
MS
González
J
J
Clemente
F
F
Sánchez
R
R
Tapia
M
M
Moya
M
M
D002871:Chromosome Banding; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000648:ultrastructure*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000235:genetics*