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Small Supernumerary Marker Chromosomes in Human Infertility.
Narjes Armanet1, Lucie Tosca, Sophie Brisset
1Service d'Histologie, Embryologie et Cytogénétique, Hôpital Antoine Béclère, Hôpitaux Universitaires Paris-Sud, Clamart, France.
Cytogenetic and Genome Research
|September 24, 2015
Summary
Small supernumerary marker chromosomes (sSMC) are linked to infertility. Most sSMCs originate from acrocentric chromosomes, potentially causing gene imbalances or meiotic issues.
Area of Science:
- Genetics
- Reproductive Biology
- Cytogenetics
Background:
- Small supernumerary marker chromosomes (sSMC) are abnormal chromosomes difficult to identify using standard banding techniques.
- The role of sSMC in human infertility requires further elucidation.
Purpose of the Study:
- To review the frequency and characteristics of sSMC in infertile patients.
- To analyze the association between sSMC and male/female infertility through a literature review.
Main Methods:
- Systematic literature review using PubMed and a dedicated sSMC database.
- Analysis of 234 infertility patients identified as sSMC carriers.
Main Results:
- sSMC were found in 234 infertile patients, involving all chromosomes except 10, 19, and X.
- 72% of sSMC originated from acrocentric chromosomes.
- Euchromatic imbalances occurred in 30% of cases, with identified genes in only 1.2%.
Conclusions:
- sSMC may contribute to infertility through partial gene trisomy or mechanical disruption of meiosis.
- Further molecular and architectural studies are necessary to understand the precise link between sSMC and infertility.
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