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Article

Phenotypic expression of tissue mosaicism in a 45,X/46,X,dicY(q11.2) female.

American journal of medical genetics - 1 Sept 2001

Udler Y, Kauschansky A, Yeshaya J, Freedman J, Barkai U, Tobar A, Okon E, Halpern G J, Shohat M, Legum C

Abstract excerpt

We describe a girl who presented at the age of 11 years with short stature. She had female external genitalia and some clinical features of Turner syndrome. At laparotomy a uterus and Fallopian tubes and small gonad-like tissue masses in the region of the Fallopian fimbria were found. The tissue masses were removed and histological examination revealed no organized testicular or ovarian morphology. Remnants of...

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Topics

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Share to Chromosomes, Human, Pair 11
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cytogenetic Analysis

Share to In Situ Hybridization, Fluorescence

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Share to Translocation, Genetic

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Source

Identifiers

PMID: 11503157
DOI: 10.1002/ajmg.1456

Genes

SRY

Provenance

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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