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Article

Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR.

American journal of medical genetics. Part A - 1 Oct 2006

Mitter Diana, Buiting Karin, von Eggeling Ferdinand, Kuechler Alma, Liehr Thomas, Mau-Holzmann Ulrike Angelika, Prott Eva-Christina, Wieczorek Dagmar, Gillessen-Kaesbach Gabriele

Abstract excerpt

Maternal uniparental disomy for chromosome 14 [upd(14)mat] is associated with a characteristic phenotype including pre- and postnatal growth retardation, muscular hypotonia, feeding problems, motor delay, small hands and feet, precocious puberty and truncal obesity. Patients with upd(14)mat show features overlapping with Prader-Willi syndrome (PWS) and are probably underdiagnosed. Maternal upd(14) is frequently...

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Share to Chromosomes, Human, Pair 14
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Low Birth Weight

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Share to RNA, Long Noncoding

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Source

Identifiers

PMID: 16906536
DOI: 10.1002/ajmg.a.31414

Genes

SNRPN

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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.

Related research

Semantic proximity does not establish scientific evidence.

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Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR.PMID 16906536Read ↗

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Recognizing the unique prenatal phenotype of Prader-Willi Syndrome (PWS) indicates the need for a diagnostic methylation test.Semantic proximity Read ↗

Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published casesSemantic proximity Read ↗

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