title: De novo 3q22.1 q24 deletion associated with multiple congenital anomalies, growth retardation and intellectual disability.
abstract: We describe a boy with a de novo deletion of 15.67 Mb spanning 3q22.1q24. He has bilateral micropthalmia, ptosis, cleft palate, global developmental delay and brain, skeletal and cardiac abnormalities. In addition, he has bilateral inguinal hernia and his right kidney is absent. We compare his phenotype with seven other patients with overlapping and molecularly defined interstitial 3q deletions. This patient has some phenotypic features that are not shared by the other patients. More cases with smaller deletions defined by high resolution aCGH will enable better genotype-phenotype correlations and prioritizing of candidate genes for the identification of pathways and disease mechanisms.
authors: KK Research Centre, KK Women's & Children's Hospital, Singapore.
authors: Maggie S
authors: MS
authors: Brett
authors: Ivy S L
authors: IS
authors: Ng
authors: Eileen C P
authors: EC
authors: Lim
authors: Min Hwee
authors: MH
authors: Yong
authors: Zhihui
authors: Z
authors: Li
authors: Angeline
authors: A
authors: Lai
authors: Ene-Choo
authors: EC
authors: Tan
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D056726:Genetic Association Studies; D006130:Growth Disorders / Q000151:congenital / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D011379:Prognosis; D012333:RNA, Messenger / Q000235:genetics; D060888:Real-Time Polymerase Chain Reaction; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D012333:RNA, Messenger