PMID- 17021336
OWN - NLM
STAT- MEDLINE
DCOM- 20070412
LR  - 20220311
IS  - 0196-3635 (Print)
IS  - 0196-3635 (Linking)
VI  - 28
IP  - 2
DP  - 2007 Mar-Apr
TI  - The analysis of meiotic segregation patterns and aneuploidy in the spermatozoa of 
      father and son with translocation t(4;5)(p15.1;p12) and the prediction of the 
      individual probability rate for unbalanced progeny at birth.
PG  - 262-72
AB  - Reciprocal chromosomal translocations (RCT) have long been recognized as 
      important etiological factors in reproductive failure. In the present study, the 
      meiotic segregation patterns of the spermatozoa of two related t(4;5)(p15.1;p12) 
      carriers (proband and his father) were compared to the empirical data from a 
      three-generation pedigree for risk assessment. Cytogenetic analysis of the 
      metaphase chromosomes was performed, and triple color fluorescence in situ 
      hybridization (FISH) was applied to the sperm heads. Similar patterns of meiotic 
      segregation were observed for both carriers, despite the finding of 
      teratozoospermia in the proband but not in his father. In addition, an increase 
      of aneuploidy in chromosome 15 in the proband and aneuploidy of chromosomes X and 
      Y in the father were observed. The high rate of miscarriages (6/10 pregnancies 
      and 4/7 pregnancies after ascertainment correction) in this family could be 
      explained by the genetically unbalanced karyotype and fertilization mediated by 
      the unbalanced spermatozoa observed for both men at a frequency of more than 60%. 
      The risk assessment for unfavorable pregnancy outcomes was predicted as 1.6% for 
      unbalanced progeny at birth and about 30% for miscarriage. These figures may be 
      used as guidelines for the genetic counseling of families with similar RCT.
FAU - Wiland, Ewa
AU  - Wiland E
AD  - Institute of Human Genetics, Polish Academy of Sciences, ul. Strzeszynska 32, 
      60-479 Poznan, Poland.
FAU - Midro, Alina T
AU  - Midro AT
FAU - Panasiuk, Barbara
AU  - Panasiuk B
FAU - Kurpisz, Maciej
AU  - Kurpisz M
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20061004
PL  - United States
TA  - J Androl
JT  - Journal of andrology
JID - 8106453
SB  - IM
MH  - Abortion, Habitual/genetics
MH  - Aged
MH  - *Aneuploidy
MH  - Chromosome Segregation/*genetics
MH  - Chromosomes, Human, Pair 4/*genetics
MH  - Chromosomes, Human, Pair 5/*genetics
MH  - Female
MH  - Humans
MH  - Male
MH  - Meiosis/*genetics
MH  - Pregnancy
MH  - Spermatozoa/cytology
MH  - Translocation, Genetic/*genetics
EDAT- 2006/10/06 09:00
MHDA- 2007/04/14 09:00
CRDT- 2006/10/06 09:00
PHST- 2006/10/06 09:00 [pubmed]
PHST- 2007/04/14 09:00 [medline]
PHST- 2006/10/06 09:00 [entrez]
AID - jandrol.106.000919 [pii]
AID - 10.2164/jandrol.106.000919 [doi]
PST - ppublish
SO  - J Androl. 2007 Mar-Apr;28(2):262-72. doi: 10.2164/jandrol.106.000919. Epub 2006 
      Oct 4.