title: 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.
authors: Department of Pediatrics, McGill University, Montreal, Quebec, Canada. vazken.derkaloustian@mcgill.ca
authors: Vazken M
authors: VM
authors: Der Kaloustian
authors: Laura
authors: L
authors: Russell
authors: Swaroop
authors: S
authors: Aradhya
authors: Gabriele
authors: G
authors: Richard
authors: Bernard
authors: B
authors: Rosenblatt
authors: Serge
authors: S
authors: Melançon
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D000072259:Connexin 26; D017630:Connexins; D002658:Developmental Disabilities / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D010641:Phenotype
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26