title: Interstitial 15q deletion without a classic Prader-Willi phenotype.
abstract: 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.
authors.affiliation: Departamento de Pediatría, Universidad de Alicante, Spain.
authors.forename: F
authors.initials: F
authors.lastname: Galán
authors.forename: M S
authors.initials: MS
authors.lastname: Aguilar
authors.forename: J
authors.initials: J
authors.lastname: González
authors.forename: F
authors.initials: F
authors.lastname: Clemente
authors.forename: R
authors.initials: R
authors.lastname: Sánchez
authors.forename: M
authors.initials: M
authors.lastname: Tapia
authors.forename: M
authors.initials: M
authors.lastname: Moya
mesh_terms: 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*