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Article

Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation.

Journal of human genetics - 1 Jan 1998

Miyoshi O, Hayashi S, Fujimoto M, Tomita H, Sohda M, Niikawa N

Abstract excerpt

Maternal uniparental disomy (UPD) for chromosome 14 [upd(14)mat] may cause a characteristic phenotype with growth and developmental deficiency and precocious puberty. We report the case of a Japanese infant with an isochromosome 14 [i(14q)] and intrauterine growth retardation (IUGR). The infant is one of triplets comprising a boy (the patient) and two karyotypically normal girls. We analyzed parent-child...

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Source

Identifiers

PMID: 9621521
DOI: 10.1007/s100380050056

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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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