Document Detail

Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics.
MedLine Citation:
PMID:  17390076     Owner:  NLM     Status:  MEDLINE    
In this study the substantial and in part contradictory data available in the literature was collected concerning the frequency of small supernumerary marker chromosomes (sSMC) in the human population in general, and in special subpopulations. One hundred and thirty-two studies on sSMC were reviewed. In summary 1,288,693 cytogenetically studied cases detecting 980 sSMC were compiled. In 132 international surveys there were no ethnic effects detected in the sSMC frequency. sSMC were present in 0.075% of unselected prenatal cases but only in 0.044% of consecutively studied postnatal ones. In infertile subjects, 0.125% were sSMC carriers, distinguishing male from female subjects by a 7.5:1 difference in sSMC frequency for this special group. In developmentally retarded patients the sSMC rate was elevated to 0.288%, similar to prenatal cases with ultrasound abnormalities (0.204%). No increased risk for the presence of sSMC was detected in ICSI-induced pregnancies. Worldwide there are approximately 2.7 x 10(6) living sSMC carriers; 1.8 x 10(6) have a de novo sSMC and approximately 70% of those are clinically normal. Strikingly, 30-50% of pregnancies diagnosed with an sSMC fetus are terminated. This may be connected with the empirical risk that approximately 30% of sSMC carriers manifest clinical abnormalities. Thus, in summary there is a strong need for a better genotype-phenotype correlation enabling better genetic counseling.
Thomas Liehr; Anja Weise
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Publication Detail:
Type:  Journal Article; Meta-Analysis; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  International journal of molecular medicine     Volume:  19     ISSN:  1107-3756     ISO Abbreviation:  Int. J. Mol. Med.     Publication Date:  2007 May 
Date Detail:
Created Date:  2007-03-28     Completed Date:  2007-05-18     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9810955     Medline TA:  Int J Mol Med     Country:  Greece    
Other Details:
Languages:  eng     Pagination:  719-31     Citation Subset:  IM    
Institute of Human Genetics and Anthropology, Jena, Germany.
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MeSH Terms
Chromosome Aberrations*
Developmental Disabilities / diagnosis*,  genetics*
Genetic Markers
Infant, Newborn
Infertility / diagnosis*,  genetics*
Reg. No./Substance:
0/Genetic Markers

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