PMID- 10861680
OWN - NLM
STAT- MEDLINE
DCOM- 20000710
LR  - 20220310
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 93
IP  - 1
DP  - 2000 Jul 3
TI  - Multicolor fluorescence in situ hybridization analysis of meiotic chromosome 
      segregation in a 47,XYY male and a review of the literature.
PG  - 40-6
AB  - The frequencies of aneuploid and diploid sperm were determined in a 47,XYY male 
      using multi-color fluorescence in situ hybridization (FISH) analysis, and 
      compared with those from 10 control donors. A total of 30,078 sperm from the 
      patient was scored, 15,044 by two-color FISH for chromosomes 13 and 21, and 
      15,034 by three-color FISH for the sex chromosomes using chromosome 1 as an 
      internal autosomal control for diploidy and lack of hybridization. The 
      frequencies of X-bearing (49.73%) and Y-bearing sperm (49.46%) in control males 
      were not significantly different from the expected 50% (chi(2)-test for goodness 
      of fit). The ratio of 24,X (50.60%) to 24, Y sperm (48.35%) in the patient, 
      however, was significantly different from the controls (P = 0.0144, chi(2)-test 
      for independence) and from the expected 1:1 ratio (P = 0.0055, chi(2)-test for 
      goodness of fit). There was no significant increase in the frequency of diploid 
      sperm when compared with the controls (chi(2)-test for independence). 
      Significantly increased frequencies were found for 24,YY (0.07% vs. 0.02%, P = 
      0.0009) and 24,XY (0.44% vs. 0.29%, P = 0.0025), but not for 24,XX (0.05% vs. 
      0.05%, P > 0. 05), 24,+13 (0.07% vs. 0.07%, P > 0.05) or 24,+21 sperm (0.21% vs. 
      0. 18%, P > 0.05) in the 47,XYY male when compared with control donors 
      (chi(2)-test for independence). Our results support the theory that loss of the 
      extra Y chromosome occurs during spermatogenesis in most cells. In this XYY 
      patient there was a significant increase in the frequency of sperm with sex 
      chromosomal abnormalities but no suggestion of an inter-chromosomal effect on 
      autosomes. All 3-color FISH studies in the literature demonstrate a significantly 
      increased risk of gonosomal aneuploidy in XYY males, with the risk being on the 
      order of 1%.
CI  - Copyright 2000 Wiley-Liss, Inc.
FAU - Shi, Q
AU  - Shi Q
AD  - Department of Medical Genetics, Faculty of Medicine, University of Calgary, and 
      Genetics Department, Alberta Children's Hospital, Calgary, Canada.
FAU - Martin, R H
AU  - Martin RH
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
EIN - Am J Med Genet. 2001 Feb 15;99(1):76
MH  - Adult
MH  - Aneuploidy
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Male
MH  - Meiosis/*genetics
MH  - *XYY Karyotype
RF  - 41
EDAT- 2000/06/22 10:00
MHDA- 2000/07/15 11:00
CRDT- 2000/06/22 10:00
PHST- 2000/06/22 10:00 [pubmed]
PHST- 2000/07/15 11:00 [medline]
PHST- 2000/06/22 10:00 [entrez]
AID - 10.1002/1096-8628(20000703)93:1<40::AID-AJMG7>3.0.CO;2-K [pii]
AID - 10.1002/1096-8628(20000703)93:1<40::aid-ajmg7>3.0.co;2-k [doi]
PST - ppublish
SO  - Am J Med Genet. 2000 Jul 3;93(1):40-6. doi: 
      10.1002/1096-8628(20000703)93:1<40::aid-ajmg7>3.0.co;2-k.