PMID- 16192706
OWN - NLM
STAT- MEDLINE
DCOM- 20060123
LR  - 20171116
IS  - 1424-859X (Electronic)
IS  - 1424-8581 (Linking)
VI  - 111
IP  - 3-4
DP  - 2005
TI  - Segregation of chromosomes in sperm of reciprocal translocation carriers: a 
      review.
PG  - 281-90
AB  - Reciprocal translocations, the most frequent structural aberration in humans, are 
      mainly transmitted by one of the parents. In order to analyze the chromosomal 
      content of the spermatozoa from carriers of chromosomal reorganizations, two 
      methods have been used, karyotyping of sperm chromosomes by the human-hamster 
      system and fluorescence in situ hybridization (FISH) in decondensed sperm nuclei. 
      In this work, we review 92 sperm chromosome segregation studies from 85 different 
      reciprocal translocation carriers, including a triple translocation carrier. 
      Using the human-hamster method, a total of 5,818 spermatozoa from 44 reciprocal 
      translocation carriers have been analyzed, 43 of them carrying a single 
      reciprocal translocation and one was a carrier of a double reciprocal 
      translocation. A segregation analysis in a carrier of a t(2;22;11) has been also 
      reported. Carrying out FISH in sperm nuclei, a total of 237,042 spermatozoa from 
      46 reciprocal translocation carriers have been analyzed. Six of these were also 
      analyzed by the human-hamster system. Taking into account both methods, a total 
      of 76 different reciprocal translocations have been studied. In 74 of these 76 
      translocations, the reorganization occurs between autosomes, and in the other 
      two, the Y chromosome is involved. Although along general lines, there are 
      similarities between the results obtained by the two methods of analysis, 
      variations are observed when the distribution of the different types of 
      segregations that produce imbalances is compared. As a general rule reciprocal 
      translocation carriers produce more unbalanced sperm than normal or balanced 
      sperm. The results reported also corroborate that the proportion of unbalanced 
      forms depends on the characteristics of the reorganization and that it varies 
      widely. Thus the importance of performing a detailed meiotic behavior analysis 
      for each particular translocation in order to obtain enough information to give 
      adequate genetic counseling is stressed. Aspects as to the possible 
      overestimation of 3:1 segregations or the presence of interchromosomal effects 
      still need to be elucidated.
CI  - Copyright 2005 S. Karger AG, Basel.
FAU - Benet, J
AU  - Benet J
AD  - Departament de Biologia Cellular, Fisiologia i Immunologia, Facultat Medicina, 
      Universitat Autonoma de Barcelona, Bellaterra, Spain. Jordi.Benet@uab.es
FAU - Oliver-Bonet, M
AU  - Oliver-Bonet M
FAU - Cifuentes, P
AU  - Cifuentes P
FAU - Templado, C
AU  - Templado C
FAU - Navarro, J
AU  - Navarro J
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - Switzerland
TA  - Cytogenet Genome Res
JT  - Cytogenetic and genome research
JID - 101142708
SB  - IM
MH  - Chromosome Segregation/*genetics
MH  - Chromosomes, Human/*genetics
MH  - Genetic Carrier Screening
MH  - Humans
MH  - Male
MH  - Spermatozoa/*physiology
MH  - *Translocation, Genetic
RF  - 74
EDAT- 2005/09/30 09:00
MHDA- 2006/01/24 09:00
CRDT- 2005/09/30 09:00
PHST- 2004/10/25 00:00 [received]
PHST- 2005/01/12 00:00 [accepted]
PHST- 2005/09/30 09:00 [pubmed]
PHST- 2006/01/24 09:00 [medline]
PHST- 2005/09/30 09:00 [entrez]
AID - 86901 [pii]
AID - 10.1159/000086901 [doi]
PST - ppublish
SO  - Cytogenet Genome Res. 2005;111(3-4):281-90. doi: 10.1159/000086901.