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Article

Monozygotic twins with 45,X/46,XY mosaicism discordant for phenotypic sex.

American journal of medical genetics - 6 Jan 1998

Costa T, Lambert M, Teshima I, Ray P N, Richer C L, Dallaire L

Abstract excerpt

We report on two sets of monozygotic twins (MZTs) discordant for phenotypic sex ascertained at birth when the female twin was noted to have signs of the Ullrich-Turner syndrome. Cytogenetic investigations on the female of the first pair showed 45,X/46,XY mosaicism in lymphocytes but fibroblasts grown from two skin biopsies at separate sites and from gonadal tissue showed only 45,X cells. The male showed mosaicism...

Topics

Female
Humans
Infant, Newborn
Karyotyping
Male
Mosaicism
Phenotype
Pregnancy
Sex Chromosome Aberrations
Turner Syndrome
Twins, Monozygotic
X Chromosome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 9450855

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-9450855-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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