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Article

[Maternal uniparental disomy 14; differential diagnosis with Prader-Willi syndrome].

Nederlands tijdschrift voor geneeskunde - 1 Jan 2015

Tamminga Saskia, Stalman Susanne E, Kamp Gerdine A, Hendriks Yvonne M C, Knegt A C Lia, Elting M W Mariet

Abstract excerpt

BACKGROUND: Maternal uniparental disomy 14 is a rare genetic disorder in which both chromosomes 14 are maternally inherited. The disorder is characterised by neonatal hypotonia and feeding difficulties, intrauterine or later growth retardation, truncal obesity and precocious puberty. During the neonatal period its clinical phenotype shows great similarities with that of Prader-Willi syndrome. CASE DESCRIPTION: We...

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Identifiers

PMID: 25898865

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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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