Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14.
作者信息
Gamba Bruno F, Rosenberg Carla, Costa Silvia, Richieri-Costa Antonio, Ribeiro-Bicudo Lucilene A
机构信息
Department of Genetics, Institute of Biosciences, São Paulo, Brazil.
Department of Genetics and Evolutionary Biology, Institute of Biosciences, São Paulo, Brazil.
出版信息
Mol Syndromol. 2015 Feb;6(1):39-43. doi: 10.1159/000371404. Epub 2015 Jan 22.
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.
摘要
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