Investigation of three XX males by cytogenetic and DNA analyses. Suggestion of Y chromosome inversion polymorphism.

Human genetics ·Vol. 78 ·No. 2 ·1988-02-00 ·Pages 179-82

Nielsen KB, Schwartz M, Sardemann H

Abstract

We report cytogenetic and DNA studies in three XX males. Two males seemed to have extra chromosomal material on the tip of one X chromosome. All three males were shown to have Y chromosome material as indicated by hybridization of Y-specific DNA probes to genomic DNA. One male was unusual in that as he showed the 15-kb fragment detected by pDP34 that is thought to map close to the Y centromere. It is suggested that this finding might point to an inversion on the Y chromosome.

MeSH Terms

Chromosome Inversion Chromosome Mapping Female Humans Infant, Newborn Karyotyping Male Polymorphism, Genetic Pregnancy Prenatal Diagnosis Sex Chromosome Aberrations/genetics X Chromosome Y Chromosome

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Nielsen K B

John F. Kennedy Institute, Glostrup, Denmark.

Schwartz M

Sardemann H

References (14)

14 references, click to expand

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Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00278192

Published

1988-02-00

Pages

179-82

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00278192 View journal details

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Investigation of three XX males by cytogenetic and DNA analyses. Suggestion of Y chromosome inversion polymorphism.

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