A De Nqyo 2.1-Mb Deletion of 13q12.11 in a Child With Developmental Delay and Minor Dysmorphic Features

摘要

We report on a patient with an interstitial deletion at 13ql2.11. He had mild developmental delay, craniofacial dysmorphism, a pectus excavatum, narrow shoulders, malformed toes, and cafe-au-lait spots. Array CGH analysis disclosed a de novo deletion spanning 2.1 Mb, within cytogenetic band 13ql2.11. 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.