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Article

Complete trisomy 1q with mosaic Y;1 translocation: A recurrent aneuploidy presenting diagnostic dilemmas

8 Sept 2005

Abstract excerpt

We present a case of a liveborn male with complete trisomy 1q in mosaic form due to a de novo unbalanced translocation. There are seven previously documented cases of complete trisomy for 1q, which demonstrate that this is a lethal condition. All cases have similar phenotype including weights greater than 50th centile for gestational age, hydrocephalus, microphthalmia, abnormal ears, small mouth or jaw, and...

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Share to Chromosomal and Genetic Variations
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Share to Prenatal Screening and Diagnostics

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Identifiers

PMID: 16152651
DOI: 10.1002/ajmg.a.30940

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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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