Cargando…

A Familial Case Report of a 13;22 Chromosomal Translocation with Recurrent Intracytoplasmic Sperm Injection Failure

The importance of cytogenetic analysis in a family with reproductive failure in two siblings is highlighted, where two siblings and their mother presented with a balanced translocation between chromosomes 13;22. The clinical evaluation had shown the female to be normal and the male to be oligoasthen...

Descripción completa

Detalles Bibliográficos
Autores principales: Verma, S, Shah, R, Bhat, A, Bhat, GR, Dada, R, Kumar, R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454244/
https://www.ncbi.nlm.nih.gov/pubmed/30984530
http://dx.doi.org/10.2478/bjmg-2018-0017
_version_ 1783409537722613760
author Verma, S
Shah, R
Bhat, A
Bhat, GR
Dada, R
Kumar, R
author_facet Verma, S
Shah, R
Bhat, A
Bhat, GR
Dada, R
Kumar, R
author_sort Verma, S
collection PubMed
description The importance of cytogenetic analysis in a family with reproductive failure in two siblings is highlighted, where two siblings and their mother presented with a balanced translocation between chromosomes 13;22. The clinical evaluation had shown the female to be normal and the male to be oligoasthenoteratozoospermic despite repeated semen analysis. The couple was referred to our laboratory after three consecutive intracytoplasmic sperm injection (ICSI) failures at a local assisted reproductive technique (ART) center. Peripheral blood lymphocytes, obtained for karyotyping, were studied by a standard G-banding technique. Chromosomal analysis of the members of the pedigree, including the probands, showed the presence of the same translocation, t(13;22)(q21.2;q13.3), carried by three generations of the family. The sister and the mother of the proband had multiple spontaneous abortions in the first trimester. The spouses, when examined cytogenetically, were found to be normal. We propose the involvement of a balanced t(13;22)(q21.2;q13.3) chromosomal translocation in the pathogenesis of recurrent ART or spontaneous reproductive failures. Hence, it is suggested that all cases with structural chromosomal abnormalities be counseled prior to opting for ART and undergoing pre-implantation genetic diagnosis (PGD). This would prevent recurrent financial, physical and emotional stress in couples seeking ART.
format Online
Article
Text
id pubmed-6454244
institution National Center for Biotechnology Information
language English
publishDate 2018
publisher Sciendo
record_format MEDLINE/PubMed
spelling pubmed-64542442019-04-12 A Familial Case Report of a 13;22 Chromosomal Translocation with Recurrent Intracytoplasmic Sperm Injection Failure Verma, S Shah, R Bhat, A Bhat, GR Dada, R Kumar, R Balkan J Med Genet Case Report The importance of cytogenetic analysis in a family with reproductive failure in two siblings is highlighted, where two siblings and their mother presented with a balanced translocation between chromosomes 13;22. The clinical evaluation had shown the female to be normal and the male to be oligoasthenoteratozoospermic despite repeated semen analysis. The couple was referred to our laboratory after three consecutive intracytoplasmic sperm injection (ICSI) failures at a local assisted reproductive technique (ART) center. Peripheral blood lymphocytes, obtained for karyotyping, were studied by a standard G-banding technique. Chromosomal analysis of the members of the pedigree, including the probands, showed the presence of the same translocation, t(13;22)(q21.2;q13.3), carried by three generations of the family. The sister and the mother of the proband had multiple spontaneous abortions in the first trimester. The spouses, when examined cytogenetically, were found to be normal. We propose the involvement of a balanced t(13;22)(q21.2;q13.3) chromosomal translocation in the pathogenesis of recurrent ART or spontaneous reproductive failures. Hence, it is suggested that all cases with structural chromosomal abnormalities be counseled prior to opting for ART and undergoing pre-implantation genetic diagnosis (PGD). This would prevent recurrent financial, physical and emotional stress in couples seeking ART. Sciendo 2018-12-31 /pmc/articles/PMC6454244/ /pubmed/30984530 http://dx.doi.org/10.2478/bjmg-2018-0017 Text en © 2018 Verma S, Shah R, Bhat A, Bhat GR, Dada R, Kumar R published by Sciendo http://creativecommons.org/licenses/by-nc-nd/3.0 This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
spellingShingle Case Report
Verma, S
Shah, R
Bhat, A
Bhat, GR
Dada, R
Kumar, R
A Familial Case Report of a 13;22 Chromosomal Translocation with Recurrent Intracytoplasmic Sperm Injection Failure
title A Familial Case Report of a 13;22 Chromosomal Translocation with Recurrent Intracytoplasmic Sperm Injection Failure
title_full A Familial Case Report of a 13;22 Chromosomal Translocation with Recurrent Intracytoplasmic Sperm Injection Failure
title_fullStr A Familial Case Report of a 13;22 Chromosomal Translocation with Recurrent Intracytoplasmic Sperm Injection Failure
title_full_unstemmed A Familial Case Report of a 13;22 Chromosomal Translocation with Recurrent Intracytoplasmic Sperm Injection Failure
title_short A Familial Case Report of a 13;22 Chromosomal Translocation with Recurrent Intracytoplasmic Sperm Injection Failure
title_sort familial case report of a 13;22 chromosomal translocation with recurrent intracytoplasmic sperm injection failure
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454244/
https://www.ncbi.nlm.nih.gov/pubmed/30984530
http://dx.doi.org/10.2478/bjmg-2018-0017
work_keys_str_mv AT vermas afamilialcasereportofa1322chromosomaltranslocationwithrecurrentintracytoplasmicsperminjectionfailure
AT shahr afamilialcasereportofa1322chromosomaltranslocationwithrecurrentintracytoplasmicsperminjectionfailure
AT bhata afamilialcasereportofa1322chromosomaltranslocationwithrecurrentintracytoplasmicsperminjectionfailure
AT bhatgr afamilialcasereportofa1322chromosomaltranslocationwithrecurrentintracytoplasmicsperminjectionfailure
AT dadar afamilialcasereportofa1322chromosomaltranslocationwithrecurrentintracytoplasmicsperminjectionfailure
AT kumarr afamilialcasereportofa1322chromosomaltranslocationwithrecurrentintracytoplasmicsperminjectionfailure
AT vermas familialcasereportofa1322chromosomaltranslocationwithrecurrentintracytoplasmicsperminjectionfailure
AT shahr familialcasereportofa1322chromosomaltranslocationwithrecurrentintracytoplasmicsperminjectionfailure
AT bhata familialcasereportofa1322chromosomaltranslocationwithrecurrentintracytoplasmicsperminjectionfailure
AT bhatgr familialcasereportofa1322chromosomaltranslocationwithrecurrentintracytoplasmicsperminjectionfailure
AT dadar familialcasereportofa1322chromosomaltranslocationwithrecurrentintracytoplasmicsperminjectionfailure
AT kumarr familialcasereportofa1322chromosomaltranslocationwithrecurrentintracytoplasmicsperminjectionfailure