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Article

Different phenotypes in two cases of an apparently identical familial (Yq;13p) translocation.

Human reproduction (Oxford, England) - 1 Apr 1992

Doneda L, Magnani I, Tibiletti M G, Dalprà L, Larizza L

Abstract excerpt

A chromosome 13 with extra material on the short arm was observed in a 17-year-old boy showing defects in skeletal growth, an altered hormone profile and asthenoteratozoospermia, and in a 46 XX fetus subjected to prenatal diagnosis. The abnormal chromosome 13 had been transmitted from phenotypically normal parents who were the mother (case 1) and the father (case 2). The extra material on the abnormal chromosome...

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Source

Identifiers

PMID: 1522192
DOI: 10.1093/oxfordjournals.humrep.a137678

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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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