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Article

Karyotypes, confined blood chimerism, and confusion: a case of genetic sex mislabelling and its potential consequences.

The New Zealand medical journal - 12 Jun 2015

Ravishankar Aarthi, Derraik José G B, Mathai Sarah, Cutfield Wayne S, Hofman Paul L

Abstract excerpt

Disorders of sex development (DSD) encompass a range of conditions, and the management of infants with DSD can be extremely complex. However, the misdiagnosis of a normal infant as a case of DSD may lead to unfortunate long-term consequences for the individual and the family. We report a case of confined blood chimerism masking as 46 XY gonadal dysgenesis in a female from a twin pair with discordant genders,...

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PMID: 26117677

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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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