PMID- 10072603
OWN - NLM
STAT- MEDLINE
DCOM- 19990330
LR  - 20220311
IS  - 0301-0171 (Print)
IS  - 0301-0171 (Linking)
VI  - 83
IP  - 3-4
DP  - 1998
TI  - FISH on sperm heads allows the analysis of chromosome segregation and 
      interchromosomal effects in carriers of structural rearrangements: results in a 
      translocation carrier, t(5;8)(q33;q13).
PG  - 275-80
AB  - Using three-color fluorescence in situ hybridization (FISH) with specific DNA 
      probes, we have determined the chromosome segregation pattern of the translocated 
      chromosomes in a human male carrier of a reciprocal translocation, 
      t(5;8)(q33;q13). At the same time, we have assessed the possible interchromosomal 
      effect on pair 21 using dual-color FISH. The segregation results showed that a 
      45.12% of the spermatozoa analyzed resulted from alternate segregation, 38.31% 
      resulted from adjacent I, 6.97% from adjacent II, and 6.56% from 3:1 segregation. 
      Finally, 1.23% could be either diploid sperm or 4:0 segregation. In both types of 
      adjacent segregations, an excess of products containing short translocated 
      segments (adjacent I) and interstitial regions (adjacent II) were found. Products 
      resulting from the presence of an interstitial chiasma in pair 5 (1.26%), were 
      found much more frequently (P < 0.0001) than those resulting from an interstitial 
      chiasma in pair 8 (0.13%) (evaluated after adjacent II segregation). In 3:1 
      segregation, the products containing one chromosome were observed more frequently 
      than those containing three chromosomes (P < 0.0001). No evidence of an 
      interchromosomal effect on chromosome 21 was detected, the percentage of disomy 
      21 being similar to that in the controls (0.23% vs. 0.37%). However, the 
      percentage of diploid sperm (1.18%) was significantly higher (P < 0. 0001) than 
      that in the controls (0.27%). FISH therefore appears to be a useful technique for 
      assessing the percentage of abnormal sperm in translocation carriers. Their 
      application in assisted reproduction centers could offer patients more accurate 
      genetic counseling.
FAU - Blanco, J
AU  - Blanco J
AD  - Unitat de Biologia Cellular, Universitat Autonoma de Barcelona, Bellaterra, 
      Spain.
FAU - Egozcue, J
AU  - Egozcue J
FAU - Clusellas, N
AU  - Clusellas N
FAU - Vidal, F
AU  - Vidal F
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - Switzerland
TA  - Cytogenet Cell Genet
JT  - Cytogenetics and cell genetics
JID - 0367735
SB  - IM
MH  - Adult
MH  - Chromosomes, Human, Pair 5/*genetics
MH  - Chromosomes, Human, Pair 8/*genetics
MH  - Data Interpretation, Statistical
MH  - Heterozygote
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Sperm Head/*metabolism
MH  - Spermatozoa/metabolism
MH  - *Translocation, Genetic
RF  - 47
EDAT- 1999/03/11 03:01
MHDA- 2000/08/16 11:00
CRDT- 1999/03/11 03:01
PHST- 1999/03/11 03:01 [pubmed]
PHST- 2000/08/16 11:00 [medline]
PHST- 1999/03/11 03:01 [entrez]
AID - 15170 [pii]
AID - 10.1159/000015170 [doi]
PST - ppublish
SO  - Cytogenet Cell Genet. 1998;83(3-4):275-80. doi: 10.1159/000015170.