<abstract xmlns="http://www.w3.org/1999/xhtml"><p> 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.</p></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.

The Largest Paracentric Inversion, The Highest Rate Of Recombinant Spermatozoa. Case Report: 46,Xy, Inv(2)(Q21.2Q37.3) And Literature Review

Reproductive Genetics Laboratory, Istanbul Memorial Hospital, Istanbul, Turkey

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.

In Vitro Fertilization Center, Istanbul Memorial Hospital, Istanbul, Turkey

Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Carriers of inversions involving euchromatic regions are at risk of having unbalanced offspring due to meiotic crossover. In carriers, recombination can occur...

The Largest Paracentric Inversion, The Highest Rate Of Recombinant Spermatozoa. Case Report: 46,Xy, Inv(2)(Q21.2Q37.3) And Literature Review

Publicado en línea: 11 dic 2014

Páginas: 55 - 61

DOI: https://doi.org/10.2478/bjmg-2014-0025

Palabras clave
Chromosome 2, Male infertility, Paracentric inversion(s) (PAIs), Recombinant spermatozoa, Sperm, Fluorescent in situ hybridization (FISH)

© Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

The Largest Paracentric Inversion, The Highest Rate Of Recombinant Spermatozoa. Case Report: 46,Xy, Inv(2)(Q21.2Q37.3) And Literature Review

Publicado en línea: 11 dic 2014

Páginas: 55 - 61

DOI: https://doi.org/10.2478/bjmg-2014-0025

Palabras claveChromosome 2, Male infertility, Paracentric inversion(s) (PAIs), Recombinant spermatozoa, Sperm, Fluorescent in situ hybridization (FISH)

© Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Palabras clave
Chromosome 2, Male infertility, Paracentric inversion(s) (PAIs), Recombinant spermatozoa, Sperm, Fluorescent in situ hybridization (FISH)