PMID- 10072576
OWN - NLM
STAT- MEDLINE
DCOM- 19990330
LR  - 20171101
IS  - 0301-0171 (Print)
IS  - 0301-0171 (Linking)
VI  - 83
IP  - 3-4
DP  - 1998
TI  - Meiotic products of two reciprocal translocations studied by multicolor 
      fluorescence in situ hybridization.
PG  - 193-8
AB  - The sperm products of two male carriers of reciprocal translocations were studied 
      by fluorescence in situ hybridization (FISH) using a combination of three probes 
      for each translocation. One patient carried a t(2;18)(p21;q11.2), the other a 
      t(8;9)(q24.2;q32). The probes selected included a centromeric marker for each 
      chromosome involved in the translocation plus a third probe distal to the 
      translocation breakpoint of one of the translocation chromosomes. This assay 
      identifies alternate, adjacent 1, adjacent 2, and 3:1 types of meiotic products. 
      It allows the identification of recombination events and also estimation of the 
      frequency of diploidy. For the t(2;18), the frequency of normal and balanced 
      sperm and of adjacent 1, adjacent 2, and 3:1 products was 43.6%, 29. 8%, 10.5%, 
      and 12.8%, respectively. Similar segregation patterns had been reported for this 
      donor by direct sperm karyotyping of sperm cells. For the t(8;9), the frequency 
      of normal and balanced sperm and of adjacent 1, adjacent 2, and 3:1 products was 
      44.4%, 41%, 3.1%, and 9.4%, respectively. The frequency of complementary adjacent 
      1 products was statistically different in both the t(2;18) (P < 0. 0001) and the 
      t(8;9) (P < 0.0001) carrier. When the number of adjacent 2 products with one 
      translocation chromosome (regardless of normal or derivative) was compared to the 
      number of adjacent 2 products with the second translocation chromosome (again, 
      regardless of normal or derivative), no statistical difference was noted for 
      either the t(2;18) (P = 0.32) or the t(8;9) (P = 0.69). Recombination events 
      within the interstitial segment of chromosome 2 were statistically higher than 
      those seen in chromosome 18 (P < 0. 0001), whereas in chromosomes 8 and 9, 
      recombination in the interstitial segments was similar (P = 0.64). The rate of 
      diploidy was similar in both the t(2;18) (0.5%) and the t(8;9) (0.6%). Thus, FISH 
      provides chromosome information on the sperm products produced by translocation 
      carriers, although it cannot provide an assessment of the full chromosome 
      complement of the spermatozoon.
FAU - Estop, A M
AU  - Estop AM
AD  - Department of Human Genetics, MCP Hahnemann Medical School, University of 
      Pittsburgh, Pittsburgh, PA, USA. estop@pgh.auhs.edu
FAU - Cieply, K M
AU  - Cieply KM
FAU - Wakim, A
AU  - Wakim A
FAU - Feingold, E
AU  - Feingold E
LA  - eng
PT  - Journal Article
PL  - Switzerland
TA  - Cytogenet Cell Genet
JT  - Cytogenetics and cell genetics
JID - 0367735
SB  - IM
MH  - Adult
MH  - Chromosome Painting
MH  - Chromosomes, Human, Pair 18/genetics
MH  - Chromosomes, Human, Pair 2/genetics
MH  - Chromosomes, Human, Pair 8/genetics
MH  - Chromosomes, Human, Pair 9/genetics
MH  - Heterozygote
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Meiosis/*genetics
MH  - Spermatozoa/cytology/metabolism
MH  - *Translocation, Genetic
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 - 15177 [pii]
AID - 10.1159/000015177 [doi]
PST - ppublish
SO  - Cytogenet Cell Genet. 1998;83(3-4):193-8. doi: 10.1159/000015177.