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Article

Monozygotic twins of discordant sex both with 45,X/46,X,idic(Y) mosaicism.

American journal of medical genetics - 1 Nov 1991

Fujimoto A, Boelter W D, Sparkes R S, Lin M S, Battersby K

Abstract excerpt

A female twin with short stature, unusual facial appearance, widely spaced nipples, and coarctation of the aorta was found to have a peripheral blood lymphocyte karyotype of 45,X(43%)/46,X,idic(Y)(p11). Her twin brother, also short with similar facial appearance, had the same mosaicism (40% 45,X)...

Topics

Dermatoglyphics
Diseases in Twins
Dwarfism
Female
Genetic Markers
Hernia, Inguinal
Humans
Infant
Male
Mosaicism
Noonan Syndrome
Phenotype
Psychomotor Performance

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sex Chromosome Aberrations

Sex Determination Analysis

Twins, Monozygotic

Y Chromosome

Source

Identifiers

PMID: 1785642
DOI: 10.1002/ajmg.1320410222

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1785642-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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