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Article

A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect.

American journal of medical genetics. Part A - 1 Jan 2012

Shoukier Moneef, Wickert Julia, Schröder Julia, Bartels Iris, Auber Bernd, Zoll Barbara, Salinas-Riester Gabriela, Weise Dagmar, Brockmann Knut, Zirn Birgit, Burfeind Peter

Abstract excerpt

Interstitial deletions of the proximal chromosome 16q are rare. To date, only six cases with molecularly well-characterized microdeletions within this chromosomal region have been described. We report on a patient with severe psychomotor delay, dysmorphic features, microcephaly and hypoplasia of the corpus callosum, epilepsy, a heart defect, and pronounced muscular hypotonia. Array comparative genomic...

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PMID: 22140031
DOI: 10.1002/ajmg.a.34387

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FTO

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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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