De novo 3q22.1 q24 deletion associated with multiple congenital anomalies, growth retardation and intellectual disability
Brett, M.S. Ng, I.S.L. Lim, E.C.P. Yong, M.H. Li, Z. Lai, A. Tan, E.-C.
Brett, M.S.
Ng, I.S.L.
Lim, E.C.P.
Yong, M.H.
Li, Z.
Lai, A.
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Alternative Title
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. © 2012 Elsevier B.V.
Keywords
3q deletion, Array CGH, Cleft palate, Growth retardation, Intellectual disability
Source Title
Gene
Publisher
Series/Report No.
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Date
2013-03-15
DOI
10.1016/j.gene.2012.12.082
Type
Article