Document Detail

Increased incidence of hyperhaploid 24,XY spermatozoa detected by three-colour FISH in a 46,XY/47,XXY male.
MedLine Citation:
PMID:  8566948     Owner:  NLM     Status:  MEDLINE    
Meiotic segregation of gonosomes from a 46,XY/47,XXY male was analysed by a three-colour fluorescence in situ hybridisation (FISH) procedure. This method allows the identification of hyperhaploid spermatozoa (with 24 chromosomes), diploid spermatozoa (with 46 chromosomes) and their meiotic origin (meiosis I or II). Alpha satellite DNA probes specific for chromosomes X, Y and 1 were observed on 27,097 sperm nuclei. The proportions of X- and Y-bearing sperm were estimated to 52.78% and 43.88%, respectively. Disomy (24,XX, 24,YY, 24,X or Y,+1) and diploidy (46,XX, 46,YY, 46,XY) frequencies were close to those obtained from control sperm, whereas the frequency of hyperhaploid 24,XY spermatozoa (2.09%) was significantly increased compared with controls (0.36%). These results support the hypothesis that a few 47,XXY germ cells would be able to complete meiosis and to produce mature spermatozoa.
E Chevret; S Rousseaux; M Monteil; Y Usson; J Cozzi; R Pelletier; B Sèle
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human genetics     Volume:  97     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1996 Feb 
Date Detail:
Created Date:  1996-03-07     Completed Date:  1996-03-07     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  171-5     Citation Subset:  IM    
Reproductive Biology Unit, DyOGen Laboratory, Albert Bonniot Institute, Grenoble University Medical School, La Tronche, France.
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MeSH Terms
Chromosomes, Human, Pair 1
DNA Probes
In Situ Hybridization, Fluorescence
Klinefelter Syndrome / genetics*
Meiosis / genetics*
Mosaicism / genetics*
Sex Chromosomes
Reg. No./Substance:
0/DNA Probes

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