PMID- 16411217
OWN - NLM
STAT- MEDLINE
DCOM- 20060530
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 140
IP  - 3
DP  - 2006 Feb 1
TI  - Risk evaluation of carriers with chromosome reciprocal translocation 
      t(7;13)(q34;q13) and concomitant meiotic segregation analyzed by FISH on 
      ejaculated spermatozoa.
PG  - 245-56
AB  - We performed the segregation analysis of a relatively large pedigree of 
      t(7;13)(q34;q13) carriers together with the sperm karyotype analysis of the one 
      carrier using a tri-color fluorescence in situ hybridization (FISH) method. The 
      risk assessments for unfavorable pregnancy outcomes in a series of 36 pregnancies 
      in eight reciprocal chromosome translocation (RCT) couples of carriers were 
      estimated directly from a pedigree after ascertainment correction. The individual 
      probability rate for unbalanced child was predicted according to 
      Stengel-Rutkowski and co-workers. The unbalanced karyotypes in the form of 
      monosomy 7q34-->qter and trisomy 13q13-->qter were detected among stillborn/early 
      death newborns with holoprosencephaly (HPE), cyclopia and other malformations. 
      Based on clinical description of unkaryotyped stillbirth progeny, it can be 
      assumed that the phenotype distinctions were connected with the unbalanced 
      karyotype from 2:2 segregation (monosomy 7q with trisomy 13q) and 3:1 segregation 
      as interchange trisomy 13 (Patau syndrome). Probability rates for miscarriages, 
      stillbirth/early death were 12.9 +/- 6% (4/31) and 29 +/- 8.2% (9/31), 
      respectively. The results of the meiotic segregation pattern indicated the rate 
      of unbalanced spermatozoa for about 60%, with the unusual high rate (29.4%) of 
      3:1 segregant (i.e., 13.4% of the tertiary segregation and 16% of the interchange 
      segregation). Adjacent-1 segregation followed with 23.5% and adjacent-2 followed 
      with 7.2% of analyzed spermatozoa. The high rate of unbalanced gametes in 
      comparison to the number of stillborn/early death and miscarriages detected in 
      pedigree suggests a strong selection against unbalanced chromosomal constitutions 
      during fetal development. It corresponds to a very small probability rate (about 
      0.3%) of viable unbalanced progeny from 3:1 meiotic segregation predicted for 
      maternal carriers. This knowledge can be used in genetic counseling of families 
      with similar RCT ascertained in a different way.
CI  - 2006 Wiley-Liss, Inc.
FAU - Midro, Alina T
AU  - Midro AT
AD  - Department of Clinical Genetics, Medical University Bialystok, Bialystok, Poland. 
      midro@amb.edu.pl
FAU - Wiland, Ewa
AU  - Wiland E
FAU - Panasiuk, Barbara
AU  - Panasiuk B
FAU - Lesniewicz, Ryszard
AU  - Lesniewicz R
FAU - Kurpisz, Maciej
AU  - Kurpisz M
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Abortion, Spontaneous
MH  - Adult
MH  - Chromosome Segregation/*genetics
MH  - Chromosomes, Human, Pair 13/*genetics
MH  - Chromosomes, Human, Pair 7/*genetics
MH  - Ejaculation
MH  - Fatal Outcome
MH  - Female
MH  - Heterozygote
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Male
MH  - Meiosis/genetics
MH  - Models, Genetic
MH  - Pedigree
MH  - Pregnancy
MH  - Risk Factors
MH  - Spermatozoa/cytology/*metabolism
MH  - Stillbirth
MH  - *Translocation, Genetic
EDAT- 2006/01/18 09:00
MHDA- 2006/05/31 09:00
CRDT- 2006/01/18 09:00
PHST- 2006/01/18 09:00 [pubmed]
PHST- 2006/05/31 09:00 [medline]
PHST- 2006/01/18 09:00 [entrez]
AID - 10.1002/ajmg.a.31083 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2006 Feb 1;140(3):245-56. doi: 10.1002/ajmg.a.31083.