Document Detail

Recombination in the pseudoautosomal region in a 47,XYY male.
MedLine Citation:
PMID:  11511918     Owner:  NLM     Status:  MEDLINE    
Males with a 47,XYY karyotype generally have chromosomally normal children, despite the high theoretical risk of aneuploidy. Studies of sperm karyotypes or FISH analysis of sperm have demonstrated that the majority of sperm are chromosomally normal in 47,XYY men. There have been a number of meiotic studies of XYY males attempting to determine whether the additional Y chromosome is eliminated during spermatogenesis, with conflicting results regarding the pairing of the sex chromosomes and the presence of an additional Y. We analyzed recombination in the pseudoautosomal region of the XY bivalent to determine whether this is perturbed in a 47,XYY male. A recombination frequency similar to normal 46,XY men would indicate normal pairing within the XY bivalent, whereas a significantly altered frequency would suggest other types of pairing such as a YY bivalent or an XYY trivalent. Two DNA markers, STS/STS pseudogene and DXYS15, were typed in sperm from a heterozygous 47,XYY male. Individual sperm (23,X or Y) were isolated into PCR tubes using a FACStarPlus flow cytometer. Hemi-nested PCR analysis of the two DNA markers was performed to determine the frequency of recombination. A total of 108 sperm was typed with a 38% recombination frequency between the two DNA markers. This is very similar to the frequency of 38.3% that we have observed in 329 sperm from a normal 46,XY male. Thus our results suggest that XY pairing and recombination occur normally in this 47,XYY male. This could occur by the production of an XY bivalent and Y univalent (which is then lost in most cells) or by loss of the additional Y chromosome in some primitive germ cells or spermatogonia and a proliferative advantage of the normal XY cells.
R H Martin; Q Shi; L L Field
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human genetics     Volume:  109     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  2001 Aug 
Date Detail:
Created Date:  2001-08-20     Completed Date:  2001-10-18     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  143-5     Citation Subset:  IM    
Department of Medical Genetics, Alberta Children's Hospital, 1820 Richmond Road SW, Calgary, Alberta T2T 5C7, Canada.
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MeSH Terms
DNA / analysis
Polymerase Chain Reaction
Recombination, Genetic*
Sex Chromosome Aberrations / genetics*,  pathology
Spermatozoa / pathology*
X Chromosome / genetics
Y Chromosome / genetics*
Reg. No./Substance:

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