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Article

Disomy of distal Xq in males: case report and overview.

American journal of medical genetics. Part A - 15 Jul 2004

Novelli Antonio, Bernardini Laura, Salpietro Damiano Carmelo, Briuglia Silvana, Merlino Maria Valeria, Mingarelli Rita, Dallapiccola Bruno

Abstract excerpt

A 46,XYq 8-year-old male was referred for microcephaly, growth, and mental retardation, hypotonia, genital hypoplasia, and dysmorphisms. FISH analysis showed that the rearranged Y chromosome originated from an unbalanced translocation of Xq27.3-qter onto the deleted Yq11.22. Analysis of reported patients with disomy of region distal to Xq26 suggests that this rare anomaly, associated with failure to dosage...

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Identifiers

PMID: 15214009
DOI: 10.1002/ajmg.a.30088

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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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