De novo 3q22.1 q24 deletion associated with multiple congenital anomalies, growth retardation and intellectual disability

Article ID	Journal	Published Year	Pages	File Type
5906839	Gene	2013	7 Pages	PDF

Abstract

âº We describe a boy with 1.67Â Mb deletion detected by array-CGH. âº He has bilateral micropthalmia, ptosis, cleft palate, global developmental delay. âº He also has bilateral inguinal hernia and his right kidney is absent. âº Phenotype is compared to seven other 3q deletion cases with breakpoints delineated by aCGH.

Keywords

foxl2 OMIM AGTR1 CGH VSD BPES ZIC OFC PCCB Forkhead box L2 qRT-PCR DWM Dandy–Walker malformation Sox14 PLOD2 ATR PDA Transferrin CCD ataxia telangiectasia and Rad3 related BAC array CGH comparative genomic hybridization computer tomography Charge-Coupled Device Growth retardation cleft palate Patent ductus arteriosus Relative quantitation intellectual disability Ventricular septal defect quantitative real time-polymerase chain reaction polymerase chain reaction PCR Online Mendelian Inheritance in Man Single nucleotide polymorphism SNP bacterial artificial chromosome kilogram