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Article

Partial trisomy 7q and monosomy 13q in a child with disorder of sex development: phenotypic and genotypic findings.

Gene - 15 Mar 2013

Shojaei Azadeh, Behjati Farkhondeh, Derakhshandeh-Peykar Pupak, Razzaghy-Azar Maryam, Otukesh Hasan, Kariminejad Roxana, Dowlati Mohammad-Ali, Rashidi-Nezhad Ali, Tavakkoly-Bazzaz Javad

Abstract excerpt

Terminal 7q duplication and terminal 13q deletion are two conditions with variable phenotypes including microcephaly, thumb a-/hypoplasia, cortical dysplasia, microphtalmia, intellectual disability and dysmorphic features. We describe a boy born to a mother with a reciprocal t (7;13) who combines both a terminal 7q33-qter duplication and terminal 13q33-qter deletion through the inheritance of a derivative...

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Identifiers

PMID: 23201896
DOI: 10.1016/j.gene.2012.11.013

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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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