PMID- 9600242
OWN - NLM
STAT- MEDLINE
DCOM- 19980610
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 102
IP  - 4
DP  - 1998 Apr
TI  - Molecular analysis of the chromosomal equipment in spermatozoa of a 46, XY, 
      t(7;8) (q11.21;cen) carrier by using fluorescence in situ hybridization.
PG  - 446-51
AB  - The meiotic segregation of a balanced reciprocal translocation (7;8) (q11.21;cen) 
      was analysed by interphase fluorescence in situ hybridization (FISH) on carrier 
      spermatozoa. A dual interphase FISH technique was applied to 34,527 decondensed 
      sperm heads with chromosome-7- and chromosome-8-specific alpha-satellite probes. 
      Analysis with such probes was possible according to the cytogenetic 
      characteristics of these translocation breakpoints, which implied a centromeric 
      breakpoint. The majority of the analysed nuclei (56.70%) showed normal (30.40%) 
      or balanced (26.30%) chromosomal equipment resulting from alternate segregation 
      during meiosis. A total of 14,935 spermatozoa (43.26%) was unbalanced with a 
      predominance of gametes resulting from adjacent-I (25.10%) or adjacent-II 
      (11.10%) segregation; such gametes could produce partial mono- or trisomies at 
      term. The frequency of analysed cells resulting from a 3:1 segregation, which 
      could induce complete mono- and trisomies at term, was 7.06%; 0.04% of scored 
      cells were diploid. The same dual-FISH technique was carried out either with 
      chromosome-15- and chromosome-18-specific probes or with gonosome-specific 
      probes, in order to detect a possible interchromosomal effect. A significant 
      increase of disomic 18 spermatozoa was observed in the carrier. Such studies are 
      not yet frequent. Multicolour-FISH seems a rapid and accurate tool for direct 
      analyses of spermatogenetic segregation mechanisms in a carrier of balanced 
      chromosomal abnormalities and provides interesting information for characterizing 
      the possible risks for the offspring.
FAU - Mercier, S
AU  - Mercier S
AD  - Laboratoire Histologie-Embryologie-Cytogenetique, UPRESA CNRS 6025, Faculte de 
      Medecine, Besancon, France.
FAU - Morel, F
AU  - Morel F
FAU - Fellman, F
AU  - Fellman F
FAU - Roux, C
AU  - Roux C
FAU - Bresson, J L
AU  - Bresson JL
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
SB  - IM
MH  - Adult
MH  - Centromere/genetics
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 15/genetics
MH  - Chromosomes, Human, Pair 18/genetics
MH  - Chromosomes, Human, Pair 7/*genetics
MH  - Chromosomes, Human, Pair 8/*genetics
MH  - *Heterozygote
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Male
MH  - Meiosis/genetics
MH  - *Spermatozoa
MH  - Translocation, Genetic/*genetics
MH  - X Chromosome/genetics
MH  - Y Chromosome/genetics
EDAT- 1998/05/26 00:00
MHDA- 1998/05/26 00:01
CRDT- 1998/05/26 00:00
PHST- 1998/05/26 00:00 [pubmed]
PHST- 1998/05/26 00:01 [medline]
PHST- 1998/05/26 00:00 [entrez]
AID - 10.1007/s004390050719 [doi]
PST - ppublish
SO  - Hum Genet. 1998 Apr;102(4):446-51. doi: 10.1007/s004390050719.