title: Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14.
abstract: The chromosome interval 10p15.3p14 harbors about a dozen genes. This region has been implicated in a few well-known human phenotypes, namely HDR syndrome (hypoparathyroidism, sensorineural deafness, and renal dysplasia) and DGS2 (DiGeorge syndrome 2), but a number of variable phenotypes have also been reported. Cleft lip/palate seems to be a very unusual finding within the clinical spectrum of patients with this deletion. Here, we report a male child born with short stature, cleft lip/palate, and feeding problems who was found to have a 5.6-Mb deletion at 10p15.3p14.
authors: Department of Genetics, Institute of Biosciences, São Paulo, Brazil.
authors: Bruno F
authors: BF
authors: Gamba
authors: Department of Genetics and Evolutionary Biology, Institute of Biosciences, São Paulo, Brazil.
authors: Carla
authors: C
authors: Rosenberg
authors: Department of Genetics and Evolutionary Biology, Institute of Biosciences, São Paulo, Brazil.
authors: Silvia
authors: S
authors: Costa
authors: Department of Syndromology Division, Hospital for Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paolo, São Paulo, Brazil.
authors: Antonio
authors: A
authors: Richieri-Costa
authors: Department of Genetics, Institute of Biosciences, São Paulo, Brazil ; Department of Genetics, Institute of Biosciences, Federal University of Goias, Goiânia, Brazil.
authors: Lucilene A
authors: LA
authors: Ribeiro-Bicudo
keywords: 10p15 deletion; Array-CGH; Cleft lip/palate; DiGeorge syndrome 2