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Article

Clinical features associated with copy number variations of the 14q32 imprinted gene cluster.

American journal of medical genetics. Part A - 1 Feb 2015

Rosenfeld Jill A, Fox Joyce E, Descartes Maria, Brewer Fallon, Stroud Tracy, Gorski Jerome L, Upton Sheila J, Moeschler John B, Monteleone Berrin, Neill Nicholas J, Lamb Allen N, Ballif Blake C, Shaffer Lisa G, Ravnan J Britt

Abstract excerpt

Uniparental disomy (UPD) for imprinted chromosomes can cause abnormal phenotypes due to absent or overexpression of imprinted genes. UPD(14)pat causes a unique constellation of features including thoracic skeletal anomalies, polyhydramnios, placentomegaly, and limited survival; its hypothesized c...

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Share to Chromosome Deletion
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Chromosomes, Human, Pair 14

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Source

Identifiers

PMID: 25756153
DOI: 10.1002/ajmg.a.36866

Genes

DLK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25756153-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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