A de novo 2.1‐Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features

Abstract We report on a patient with an interstitial deletion at 13q12.11. He had mild developmental delay, craniofacial dysmorphism, a pectus excavatum, narrow shoulders, malformed toes, and café‐au‐lait spots. Array CGH analysis disclosed a de novo deletion spanning 2.1 Mb, within cytogenetic band 13q12.11. The deletion produces hemizygozity for 16 known genes, among which GJA3 , GJB2 , GJB6 , IFT88 , LATS2 , and FGF9 have potential clinical significance. The observed phenotype may be due to mutation in one of the 16 genes, or to a combination of deletion and/or mutation in a number of them. © 2011 Wiley‐Liss, Inc.