PMID- 10394934
OWN - NLM
STAT- MEDLINE
DCOM- 19990723
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 104
IP  - 5
DP  - 1999 May
TI  - Multicolor fluorescence in situ hybridization analysis of the spermatozoa of a 
      male heterozygous for a reciprocal translocation t(11;22)(q23;q11).
PG  - 412-7
AB  - A reciprocal translocation between chromosomes 11 and 22 is a site-specific 
      translocation that has been seen in many families with no common ancestry. This 
      translocation is of particular interest because balanced carriers have a 0.7-3.7% 
      risk of having children with the supernumerary der(22), resulting from a 3:1 
      segregation. We have used a three color fluorescence in situ hybridization (FISH) 
      with specific DNA probes to determine the chromosome segregation pattern of a 
      male carrier of a translocation t(11;22)(q23;q11). The probes selected included a 
      centromeric marker for chromosome 11, a marker closely linked to the centromere 
      of chromosome 22, and a third probe distal to the translocation breakpoint of 
      chromosome 22. The results showed that 3:1 segregation is preferential in this 
      patient, with 40.1% of spermatozoa belonging to this segregation type. Alternate 
      segregation followed with 27.4% of analyzed spermatozoa; 17.6% resulted from 
      adjacent 1 and 12.5% resulted from adjacent 2 segregation. We detected 0.5% of 
      presumably diploid spermatozoa. Complementary adjacent 1 products were observed 
      at statistically different frequencies (P = 0.02). Complementary adjacent 2 
      products without recombination in the interstitial segments were also seen at 
      different frequencies (P = 0.002). In 3:1 segregation, the products containing 
      one chromosome were observed more frequently than those with three chromosomes (P 
      = 0.0001). The 24,+der(22) gamete was seen more frequently than all of the other 
      gametes combined which had 24 chromosomes resulting from 3:1 segregation. The 
      results of this study demonstrate that in this t(11;22) carrier, 3:1 segregation 
      is preferential but not exclusive.
FAU - Estop, A M
AU  - Estop AM
AD  - Department of Human Genetics, MCP-Hahnemann University of the Health Sciences, 
      Pittsburgh, Pennsylvania, USA. estop@pgh.auhs.edu
FAU - Cieply, K M
AU  - Cieply KM
FAU - Munne, S
AU  - Munne S
FAU - Feingold, E
AU  - Feingold E
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Adult
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 11
MH  - *Chromosomes, Human, Pair 22
MH  - Genetic Carrier Screening
MH  - Genetic Markers
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Spermatozoa/*pathology
MH  - *Translocation, Genetic
EDAT- 1999/07/08 00:00
MHDA- 1999/07/08 00:01
CRDT- 1999/07/08 00:00
PHST- 1999/07/08 00:00 [pubmed]
PHST- 1999/07/08 00:01 [medline]
PHST- 1999/07/08 00:00 [entrez]
AID - 10.1007/s004390050977 [doi]
PST - ppublish
SO  - Hum Genet. 1999 May;104(5):412-7. doi: 10.1007/s004390050977.