CHROMOSOMAL POLYMORPHISMS INVOLVED IN
REPRODUCTIVE FAILURE IN THE ROMANIAN POPULATION
Mierla D1,2*, Stoian V2
*Corresponding Author: Dana Mierla MD, Department of Genetics, Faculty of Biology, University of Bucharest,
Bucharest, Romania; Tel.: +40721479083; E-mail: dana_mierla@yahoo.com
page: 23
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Abstract
Cytogenetic heteromorphisms are described as
variations at specific chromosomal regions with no
impact on phenotype. The purpose of this study was
to investigate the effects of these chromosomal polymorphisms
involved in reproductive failure in the
Romanian population.
One thousand eight hundred and nine infertile patients,
who were referred to Life Memorial Hospital,
Bucharest, Romania, between January 2008 and April
2011, were investigated in this retrospective study.
The frequency of chromosomal polymorphic variations
was calculated for these patients. The control
group is represented by 1116 fetuses investigated by
amniocentesis between January 2009 and April 2011.
In this study 122 (6.74%) infertile patients and 63
fetuses (5.65%) showed chromosomal polymorphic
variations. The differences between the two groups
was not statistically significant (p <0.242) but there
was statistical significance for some specific chromosomal
polymor- phisms [inv(9),1qh+, 9qh+, fra(17)].
Some chromosomal polymorphic variations appear
to be associated with reproductive failure. The
statistically significantly higher incidence of heterochromatic
variations found in infertile individuals
emphasizes the need to assess their role in infertility
and subfertility.
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