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Article

A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation.

American journal of medical genetics. Part A - 1 Jul 2007

Ghebranious Nader, Giampietro Philip F, Wesbrook Frederic P, Rezkalla Shereif H

Abstract excerpt

Many multiple congenital anomalies (MCA) are caused by recombination between homologous segmental duplications. In this report, we describe a novel "de novo" microdeletion in male monozygotic twins presenting with aortic valve abnormality, seizure disorder, and mild mental retardation. Using array based comparative genomic hybridization, we mapped the microdeletion to the short arm of chromosome 16 at 16p11.2 and...

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Source

Identifiers

PMID: 17568417
DOI: 10.1002/ajmg.a.31837

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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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