Cleft Lip/Palate, Short Stature, and Developmental Delay in a Boy with a 5.6-Mb Interstitial Deletion Involving 10p15.3p14

Molecular Syndromology

Bruno F. Gamba¹  Carla Rosenberg¹  Lucilene A. Ribeiro-Bicudo¹  Silvia Costa¹  Antonio Richieri-Costa¹ 

[1] aDepartment of Genetics, Institute of Biosciences, São Paulo, Brazil

关键词: 10p15 deletion;    Array-CGH;    Cleft lip/palate;    DiGeorge syndrome 2;   

DOI  :  10.1159/000371404

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

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.

【 授权许可】

Unknown