THE LARGEST PARACENTRIC INVERSION, THE HIGHEST
RATE OF RECOMBINANT SPERMATOZOA. CASE REPORT:
46,XY, inv(2)(q21.2q37.3) AND LITERATURE REVIEW
Yapan CC, Beyazyurek C, Ekmekci CG, Kahraman S
*Corresponding Author: Cigdem Cinar Yapan, MSc., Reproductive Genetics Laboratory, Istanbul Memorial Hospital,
Piyalepasa Street, 34385 Sisli, Istanbul, Turkey. Tel.: +90-212-314-6666. Fax: +90-212-314-6657.
E-mail: cigdemcinar78@gmail.com
page: 55
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INTRODUCTION
Balanced paracentric inversions (PAIs) are structural
chromosomal rearrangements that are formed
on
a chromosome arm involving two breaks and rejoining
of the chromosome segment after 180° rotation.
In humans, the incidence of PAI ranges from 0.1-
0.5% [1,2].
During meiosis, if a crossover occurs within
the inversion loop, four segregational products are
formed [3,4] (Figure 1). Gametes containing unbalanced
chromosomes very rarely give rise to a viable
zygote. However, several cases of viable recombinant
offspring have been reported [5-7]. Furthermore,
the relationship between infertility and PAIs
reveals an association with recurrent miscarriage and
infertility problems among PAI carriers [8,9], indicating
the real recombination frequency in PAI must
be higher than suspected from liveborn data [10].
Chromosomal analysis of gametes helps to clear up
this controversial issue and provide detailed information
about the percentage of viable recombinants.
Ten male carriers of PAI have been investigated
to date and the frequency of recombinant spermatozoa
varied from 0.0 to 12.6% [10-16]. The present
case is the second with the meiotic segregation
analysis performed for chromosome 2 in a male
PAI carrier. In this report, we aimed to evaluate the
rate of recombinant spermatozoa in a PAI carrier
[46,XY,inv(2)(q21.2q37.3)] using a fluorescent in situ hybridization (FISH) technique. Furthermore,
the impact of this PAI was also assessed on aneuploidies
of other chromosomes to identify any possibility
of interchromosomal effect (ICE) and consequences
on fertility.
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