Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14

Bruno F Gamba; Carla Rosenberg; Silvia Costa; Antonio Richieri-Costa; Lucilene A Ribeiro-Bicudo

doi:10.1159/000371404

Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14

Mol Syndromol. 2015 Feb;6(1):39-43. doi: 10.1159/000371404. Epub 2015 Jan 22.

Authors

Bruno F Gamba¹, Carla Rosenberg², Silvia Costa², Antonio Richieri-Costa³, Lucilene A Ribeiro-Bicudo⁴

Affiliations

¹ Department of Genetics, Institute of Biosciences, São Paulo, Brazil.
² Department of Genetics and Evolutionary Biology, Institute of Biosciences, São Paulo, Brazil.
³ Department of Syndromology Division, Hospital for Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paolo, São Paulo, Brazil.
⁴ Department of Genetics, Institute of Biosciences, São Paulo, Brazil ; Department of Genetics, Institute of Biosciences, Federal University of Goias, Goiânia, Brazil.

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.

Keywords: 10p15 deletion; Array-CGH; Cleft lip/palate; DiGeorge syndrome 2.

Publication types

Case Reports