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Article

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.

Clinical genetics - 1 Nov 2008

Ballif B C, Theisen A, McDonald-McGinn D M, Zackai E H, Hersh J H, Bejjani B A, Shaffer L G

Abstract excerpt

We report the identification of microdeletions of 16q11.2q12.2 by microarray-based comparative genomic hybridization (aCGH) in two individuals. The clinical features of these two individuals include hypotonia, gastroesophageal reflux, ear anomalies, and toe deformities. Other features include dev...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18811697
DOI: 10.1111/j.1399-0004.2008.01094.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18811697-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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