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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...

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Source

Identifiers

PMID: 22043489
DOI: 10.1002/ajmg.a.34198

Genes

FGF9
GJA3
GJB2
GJB6
IFT88
LATS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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