Dicentric Y chromosome in mixed gonadal dysgenesis.

Journal of medical genetics ·Vol. 12 ·No. 2 ·1975-06-00 ·Pages 210-2

Hayek A, Yunis E

Abstract

A 15-year-old girl was investigated because of ambiguous genitalia. Her chromosome studies showed a 45, X/45, Xdic(Yq) mosaicism. The identity of the dicentric Y chromosome was demonstrated by its typical fluorescent banding patterns. Histological evidence of mixed gonadal dysgenesis with intragonadal tumour was observed, confirming the occurrence of gonadoblastoma associated with mosaicism in which at least one cell bears a Y chromosome.

MeSH Terms

Adolescent Chromosomes Disorders of Sex Development Dysgerminoma/physiopathology Female Humans Karyotyping Lymphocytes/ultrastructure Mosaicism Phenotype Quinacrine Sex Chromosomes Sex Determination Analysis Staining and Labeling Turner Syndrome

Chemicals

Quinacrine

Authors & Affiliations

2 authors, click to expand affiliations / ORCID

Hayek A

Yunis E

References (5)

5 references, click to expand

Mixed gonadal dysgenesis.
Pediatrics. 1973 Nov;52(5):725-42 PMID: 4147604
Occurrence of tumors in dysgenetic gonads.
Cancer. 1967 Aug;20(8):1301-10 PMID: 4291636
Human dicentric Y chromosomes. Case report and review of the literature.
J Med Genet. 1973 Mar;10(1):74-9 PMID: 4697856
[8 cases of XO-XY mosaicism, one XO-XYq--with gonadoblastoma].
Union Med Can. 1969 Oct;98(10):1667-85 PMID: 5400063
Analysis of human metaphase chromosome set by aid of DNA-binding fluorescent agents.
Exp Cell Res. 1970 Oct;62(2):490-2 PMID: 5495462

Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

0022-2593

DOI

10.1136/jmg.12.2.210

Published

1975-06-00

Pages

210-2

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1013268

Subset

External Links

PubMed source DOI: 10.1136/jmg.12.2.210 PMC Full Text View journal details

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Dicentric Y chromosome in mixed gonadal dysgenesis.

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