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Article

A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicism.

Journal of human genetics - 1 Mar 2018

Ushijima Kikumi, Yatsuga Syuichi, Matsumoto Takako, Nakamura Akie, Fukami Maki, Kagami Masayo

Abstract excerpt

The predominant symptoms of trisomy 14 mosaicism are prenatal and postnatal growth failure, ear abnormalities, congenital heart disease, developmental delay, and genitourinary abnormalities. Maternal uniparental disomy of chromosome 14 (upd(14)mat) presents discernible clinical features such as prenatal and postnatal growth failure, hypotonia, precocious puberty, and obesity. Given the small number of previously...

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PMID: 29311684
DOI: 10.1038/s10038-017-0381-z

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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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