PMID- 15528264
OWN - NLM
STAT- MEDLINE
DCOM- 20050616
LR  - 20061115
IS  - 0268-1161 (Print)
IS  - 0268-1161 (Linking)
VI  - 20
IP  - 2
DP  - 2005 Feb
TI  - Mitotic and meiotic behaviour of a naturally transmitted ring Y chromosome: 
      reproductive risk evaluation.
PG  - 462-8
AB  - BACKGROUND: The mitotic and meiotic behaviour of a transmitted ring Y [r(Y)] 
      chromosome from a father to his Klinefelter syndrome (KS) son, and the mechanism 
      of ring formation are analysed herein. To our knowledge, this is the first 
      reported case of natural transmission of an r(Y). METHODS AND RESULTS: 
      Amplification of X chromosome polymorphisms by PCR showed that the KS was of 
      paternal origin. G-banding and fluorescence in situ hybridization (FISH) studies 
      revealed a similar percentage of mosaicism in father and son by mitotic loss of 
      r(Y). SRY gene and Y marker amplification by PCR, FISH with subtelomeric probes 
      for Xp/Yp and Xq/Yq, and comparative genomic hybridization (CGH) analyses 
      indicated the intactness of the Y chromosome from SRY to subtelomere Yq. FISH 
      analysis of sperm from the father showed significantly higher frequencies 
      (P<0.005) for diploidy and for 6, 13, 18, 21, 22, XX, XY disomies than those 
      observed in control donors. CONCLUSIONS: An r(Y) with low material loss can be 
      naturally transmitted, showing similar mitotic behaviour in the offspring. The 
      presence of an r(Y) chromosome in germinal cells increased the risk of fathering 
      offspring with numerical abnormalities, even for chromosomes not involved in the 
      arrangement.
FAU - Arnedo, Nuria
AU  - Arnedo N
AD  - Departament de Biologia Cel.lular, Fisiologia i Immunologia, Universitat Autonoma 
      de Barcelona, 08193 Bellaterra, Barcelona, Spain.
FAU - Nogues, Carme
AU  - Nogues C
FAU - Bosch, Merce
AU  - Bosch M
FAU - Templado, Cristina
AU  - Templado C
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20041104
PL  - England
TA  - Hum Reprod
JT  - Human reproduction (Oxford, England)
JID - 8701199
SB  - IM
MH  - Chromosomes, Human, Y/*genetics
MH  - Fathers
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Klinefelter Syndrome/*genetics
MH  - Male
MH  - Meiosis/*genetics
MH  - Mitosis/*genetics
MH  - Polymerase Chain Reaction
MH  - Pregnancy
MH  - *Ring Chromosomes
EDAT- 2004/11/06 09:00
MHDA- 2005/06/17 09:00
CRDT- 2004/11/06 09:00
PHST- 2004/11/06 09:00 [pubmed]
PHST- 2005/06/17 09:00 [medline]
PHST- 2004/11/06 09:00 [entrez]
AID - deh598 [pii]
AID - 10.1093/humrep/deh598 [doi]
PST - ppublish
SO  - Hum Reprod. 2005 Feb;20(2):462-8. doi: 10.1093/humrep/deh598. Epub 2004 Nov 4.