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Article

Prenatal diagnosis of de novo int22h1/int22h2-mediated Xq28 duplication syndrome involving RAB39B following a previous ambiguous genitalia pregnancy.

Taiwanese journal of obstetrics & gynecology - 1 May 2022

Chien Yung Chen, Chen Jia Shing, Shiao Yu Ming, Hsiao Ching Hua

Abstract excerpt

OBJECTIVE: To report a prenatal diagnosis of int22h1/int22h2-mediated Xq28 duplication syndrome. CASE REPORT: Herein, we present the case of a 28-year-old female who had a previous ambiguous genitalia pregnancy without genetic abnormality that was terminated at 23+2 weeks of gestation. The fetus of the current pregnancy harbored a de novo copy number variation at the Xq recurrent region (int22h1/int22h2-flanked;...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 35595445
DOI: 10.1016/j.tjog.2022.03.017

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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