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Article

Further characterization of the new microdeletion syndrome of 16p11.2-p12.2.

American journal of medical genetics. Part A - 1 Jun 2009

Battaglia Agatino, Novelli Antonio, Bernardini Laura, Igliozzi Roberta, Parrini Barbara

Abstract excerpt

Using aCGH, we have identified a pericentromeric deletion, spanning about 8.2 Mb, within 16p11.2-p12.2 in a patient with developmental delay (DD) and dysmorphic features. This deletion arose de novo and is flanked by segmental duplications. The proposita was the only child of healthy nonconsanguineous parents, born after an uneventful pregnancy, at 40 weeks gestation, by normal delivery. She was referred to us at...

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Identifiers

PMID: 19449418
DOI: 10.1002/ajmg.a.32847

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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