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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Abstract
Carriers of inversions involving euchromatic
regions are at risk of having unbalanced offspring
due to meiotic crossover. In carriers, recombination
can occur during gametogenesis and cause genetically
unbalanced sperm and subsequently unbalanced
embryos. Here we present segregation analysis
results of an infertile male with 46,XY,inv(2)
(q21.2q37.3) using fluorescent in situ hybridization
(FISH) on sperm cells. This is the largest paracentric
inversion (PAI) reported so far in a meiotic
segregation analysis study. Sperm FISH revealed
28.0% recombinant spermatozoa rate for chromosome
2, which was the highest rate in PAI carriers
in the literature. Our results indicate a clear correlation
between the size of the inverted segment and
the frequency of the recombinant spermatozoa. The
results of the FISH analysis with the information of
unbalanced spermatozoa rate can provide accurate
counseling on the genetic risk of infertility.
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