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PMID: 3473936 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

A 45,X male with Y-specific DNA translocated onto chromosome 15.

American journal of human genetics ·Vol. 40 ·No. 6 ·1987-06-00 ·Pages 477-88

Gal A, Weber B, Neri G, Serra A, Müller U, Schempp W, Page DC

Abstract

A 20-year-old male patient with chromosomal constitution 45,X, testes and normal external genitalia was examined. Neither mosaicism nor a structurally aberrant Y chromosome was observed when routine cytogenetic analysis was performed on both lymphocytes and skin fibroblasts. Y chromosome-specific single-copy and repeated DNA sequences were detected in the patient's genome by means of 11 different recombinant-DNA probes of known regional assignment on the human Y chromosome. Data indicated that the short arm, the centromere, and part of the long-arm euchromatin of the Y chromosome have been retained and that the patient lacks deletion intervals 6 and 7 of Yq. High-resolution analysis of prometaphase chromosomes revealed additional euchromatic material on the short arm of one of the patient's chromosomes 15. After in situ hybridization with the Y chromosome-specific probe pDP105, a significant grain accumulation was observed distal to 15p11.2, suggesting a Y/15 chromosomal translocation. We conclude that some 45,X males originate from Y-chromosome/autosome translocations following a break in the proximal long arm of the Y chromosome.

MeSH Terms
Adult Chromosomes, Human, Pair 15 DNA/genetics Genetic Markers Humans Karyotyping Male Noonan Syndrome/genetics Nucleic Acid Hybridization Pedigree Translocation, Genetic Y Chromosome
Chemicals
Genetic Markers DNA
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Gal A
Weber B
Neri G
Serra A
Müller U
Schempp W
Page D C
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34 references, click to expand
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1987-06-00
Pages
477-88
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1684161
Subset
IM
Grants
NICHD NIH HHS · HD20059 · United States
External Links
PubMed source PMC Full Text View journal details
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