PMID- 12399524
OWN - NLM
STAT- MEDLINE
DCOM- 20030501
LR  - 20220408
IS  - 0196-3635 (Print)
IS  - 0196-3635 (Linking)
VI  - 23
IP  - 6
DP  - 2002 Nov-Dec
TI  - Molecular cytogenetic detection of meiotic segregation patterns in sperm nuclei 
      of carriers of 46,XY,t(15;17)(q21; q25).
PG  - 793-8
AB  - Structural chromosomal abnormalities in gonadal tissue represent an important 
      category of parentally transmittable unbalanced chromosomal abnormalities to the 
      offspring. A child with multiple anomalies was sent for cytogenetic analysis, and 
      his karyotype was 46,XY,der(17)t(15;17)(q21; q25). This abnormality was 
      transferred from his grandfather to his father and to the proband. In this 
      family, 5 persons (1 female and 4 male) are the carriers of this abnormality. In 
      this study, fluorescence in situ hybridization (FISH) on sperm nuclei of 4 male 
      carriers was studied to determine the distribution of segregation patterns of the 
      balanced translocation 15q;17q. The segregation results showed that the 
      segregation products in the third carrier (the grandfather) were different, but 
      they were not statistically significant. The segregation patterns in the other 
      carriers were similar. Overall, 50.3% of the sperm nuclei (mean value for 4 
      carriers) analyzed were the result of alternate segregation; 36.9%, of adjacent I 
      segregation; 9.0%, of adjacent II segregation; and 2.4%, of 3:1 segregation; the 
      remaining 1.3% could be diploid sperm nuclei or of 4:0 segregation. Multicolor 
      FISH analysis appears to be a rapid and reliable method for the direct analysis 
      of segregation patterns in sperm nuclei of carriers of balanced reciprocal 
      translocation, and it also provides interesting information for determining the 
      possible risks for the offspring.
FAU - Cora, Tulin
AU  - Cora T
AD  - Department of Medical Genetics, Medical Faculty, Selcuk University, Konya, 
      Turkey. yaseminsena@hotmail.com
FAU - Acar, Hasan
AU  - Acar H
FAU - Kaynak, Murat
AU  - Kaynak M
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - J Androl
JT  - Journal of andrology
JID - 8106453
SB  - IM
EIN - J Androl. 2004 Jan-Feb;25(1):162
MH  - Adult
MH  - Cell Nucleus/physiology
MH  - *Chromosome Aberrations
MH  - *Chromosome Segregation
MH  - Chromosomes, Human, Pair 15
MH  - Chromosomes, Human, Pair 18
MH  - Cytogenetic Analysis
MH  - Female
MH  - *Heterozygote
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Male
MH  - Meiosis/*genetics
MH  - Metaphase
MH  - Middle Aged
MH  - Spermatozoa/*physiology
MH  - *Translocation, Genetic
EDAT- 2002/10/26 04:00
MHDA- 2003/05/02 05:00
CRDT- 2002/10/26 04:00
PHST- 2002/10/26 04:00 [pubmed]
PHST- 2003/05/02 05:00 [medline]
PHST- 2002/10/26 04:00 [entrez]
PST - ppublish
SO  - J Androl. 2002 Nov-Dec;23(6):793-8.