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Article

Complex chromosome rearrangement 46,XY, der(9)t(Y;9)(q12;p23) in a girl with sex reversal and mental retardation.

Urology - 1 May 2011

Lee I-Wen, Chou Yen-Yin, Hsu Keng-Fu, Chou Pei-Yi, Chen Ming, Kuo Pao-Lin, Lin Shio-Jean

Abstract excerpt

Monosomy 9p syndrome, also known as Alfi syndrome, has been described as a contiguous syndrome characterized by mental retardation, developmental delay, and facial dysmorphisms. Males with monosomy 9p often express variable degrees of feminization, although the genitalia of females will be normal...

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Share to Gene Rearrangement
Share to Gonadal Dysgenesis, 46,XY
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Identifiers

PMID: 20974486
DOI: 10.1016/j.urology.2010.07.473

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20974486-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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