Article
A de novo 2.1-Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features.
American journal of medical genetics. Part A - 1 Oct 2011
Der Kaloustian Vazken M, Russell Laura, Aradhya Swaroop, Richard Gabriele, Rosenblatt Bernard, Melançon Serge
Abstract excerpt
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...
Topics
- Abnormalities, Multiple
- Child, Preschool
- Chromosome Deletion
- Chromosome Disorders
- Chromosomes, Human, Pair 13
- Comparative Genomic Hybridization
- Connexin 26
- Connexins
- Developmental Disabilities
- Humans
- Male
- Phenotype