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PMID: 10819018 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

Characterization of a new aberration of the human Y chromosome by banding methods and DNA restriction endonuclease analysis.

Human genetics ·Vol. 59 ·No. 1 ·1981-00-00 ·Pages 26-35

Schmid M, Gall H, Schempp W, Weber L, Schmidtke J

Abstract

Comparative cytogenetic analyses were performed with ten different banding methods on a previously undescribed, inherited structural aberration of a Y chromosome, and the results compared with those of normal Y chromosomes occurring in the same family. The value of the individual staining techniques in investigations of Y chromosomal aberrations is emphasized. The aberrant Y chromosome analyzed can be formally derived from an isodicentric Y chromosome for the short arm with a very terminal long-arm breakpoint, in which the centromere, an entire short arm, and the proximal region on one long arm was lost. This interpretation was confirmed by determining the amount of the two Y-specific DNA sequences (2.1 and 3.4 kb in length) by means of Hae III restriction endonuclease analysis. The karyotype-phenotype correlations in the men with this aberrant Y chromosome, especially the fertility dysfunctions (oligoasthenoteratozoospermia, cryptozoospermia), are discussed. The possibility of the existence of fertility factors involved in the control of spermatogenesis within the quinacrine-bright heterochromatic region of the Y long arm is presented.

MeSH Terms
Adult Chromosome Aberrations Chromosome Banding/methods DNA Restriction Enzymes Female Humans Infertility, Male Male Middle Aged Pedigree Sex Chromosome Aberrations Sperm Count Y Chromosome/ultrastructure
Chemicals
DNA Restriction Enzymes
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Schmid M
Abteilung Humangenetik, University of Ulm, Federal Republic of Germany.
Gall H
Schempp W
Weber L
Schmidtke J
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00278850
Published
1981-00-00
Pages
26-35
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00278850 View journal details
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