PMID- 22540876
OWN - NLM
STAT- MEDLINE
DCOM- 20121127
LR  - 20120514
IS  - 1939-6376 (Electronic)
IS  - 1939-6368 (Linking)
VI  - 58
IP  - 3
DP  - 2012 Jun
TI  - Meiotic segregation study of a novel t(3;6)(q21;q23) in an infertile man using 
      fluorescence in situ hybridization (FISH).
PG  - 160-4
LID - 10.3109/19396368.2012.670868 [doi]
AB  - Male carriers with balanced reciprocal translocations can produce a variable 
      proportion of unbalanced gametes resulting in reproductive failures. The presence 
      of a structural rearrangement may induce an interchromosomal effect. This is 
      characterized by abnormal bivalents not involved in the reorganization thereby 
      yielding non-disjunction, which would present as aneuploid spermatozoa for these 
      chromosomes. In the present case report segregation analysis of the sperm and 
      investigation of interchromosomal effect were carried out using cytogenetic and 
      fluorescence in situ hybridization (FISH) analysis on blood lymphocytes. The 
      karyotype of the patient was 46,XY,t(3;6)(q21;q23). During sperm segregation 
      analysis a total of 2,002 sperms were evaluated, of which 46.8% showed 
      normal/balanced (alternate segregation mode) and 53.2% of sperm showed an 
      abnormal signal pattern. A significant difference in the frequency of the 
      estimated number of chromosome anomalies was observed in the translocation 
      carrier when compared to the normozoospermic group (P<0.0001) and the 
      oligozoospermic group (P<0.0001). Meiotic segregation analysis of sperm together 
      with aneuploidy assessment for X, Y, and 17 chromosomes using FISH allows for the 
      determination of a reproductive prognosis in male balanced translocation carriers 
      and can be used for appropriate genetic counseling.
FAU - Mokanszki, Attila
AU  - Mokanszki A
AD  - Clinical Genetic Center, Department of Pediatrics, Medical and Health Science 
      Center, University of Debrecen, Debrecen, Hungary.
FAU - Ujfalusi, Aniko
AU  - Ujfalusi A
FAU - Balogh, Erzsebet
AU  - Balogh E
FAU - Sumegi, Andrea
AU  - Sumegi A
FAU - Antal-Szalmas, Peter
AU  - Antal-Szalmas P
FAU - Bazsane, Zsuzsa Kassai
AU  - Bazsane ZK
FAU - Molnar, Zsuzsanna
AU  - Molnar Z
FAU - Varga, Attila
AU  - Varga A
FAU - Sapy, Tamas
AU  - Sapy T
FAU - Jakab, Attila
AU  - Jakab A
FAU - Olah, Eva
AU  - Olah E
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20120430
PL  - England
TA  - Syst Biol Reprod Med
JT  - Systems biology in reproductive medicine
JID - 101464963
SB  - IM
MH  - Adult
MH  - Chromosome Segregation/genetics
MH  - *Chromosomes, Human, Pair 3
MH  - *Chromosomes, Human, Pair 6
MH  - Chromosomes, Human, X/genetics
MH  - Chromosomes, Human, Y/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Infertility, Male/*genetics
MH  - Male
MH  - Meiosis/*genetics
MH  - Spermatozoa/*cytology
MH  - Translocation, Genetic/*genetics
MH  - Young Adult
EDAT- 2012/05/01 06:00
MHDA- 2012/12/10 06:00
CRDT- 2012/05/01 06:00
PHST- 2012/05/01 06:00 [entrez]
PHST- 2012/05/01 06:00 [pubmed]
PHST- 2012/12/10 06:00 [medline]
AID - 10.3109/19396368.2012.670868 [doi]
PST - ppublish
SO  - Syst Biol Reprod Med. 2012 Jun;58(3):160-4. doi: 10.3109/19396368.2012.670868. 
      Epub 2012 Apr 30.