Cargando…

Complex balanced chromosomal translocation t(2;5;13) (p21;p15;q22) in a woman with four reproductive failures

BACKGROUND: Balanced complex translocations (BCTs) are rare events, they may result in reproductive failures: spontaneous abortions, missed abortions, stillbirths, congenital malformations in children, and male infertility. BCTs belong to the group of complex chromosome rearrangements (CCRs) – up to...

Descripción completa

Detalles Bibliográficos
Autores principales: Lazarczyk, Ewelina, Drozniewska, Malgorzata, Pasinska, Magdalena, Stasiewicz-Jarocka, Beata, Midro, Alina T, Haus, Olga
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4243319/
https://www.ncbi.nlm.nih.gov/pubmed/25426170
http://dx.doi.org/10.1186/s13039-014-0083-6
_version_ 1782346088453242880
author Lazarczyk, Ewelina
Drozniewska, Malgorzata
Pasinska, Magdalena
Stasiewicz-Jarocka, Beata
Midro, Alina T
Haus, Olga
author_facet Lazarczyk, Ewelina
Drozniewska, Malgorzata
Pasinska, Magdalena
Stasiewicz-Jarocka, Beata
Midro, Alina T
Haus, Olga
author_sort Lazarczyk, Ewelina
collection PubMed
description BACKGROUND: Balanced complex translocations (BCTs) are rare events, they may result in reproductive failures: spontaneous abortions, missed abortions, stillbirths, congenital malformations in children, and male infertility. BCTs belong to the group of complex chromosome rearrangements (CCRs) – up to date about 260 cases were described. RESULTS: The described patient and her husband were referred to genetic counseling clinic because of four reproductive failures. GTG-banded chromosome analysis revealed presence of apparently balanced complex translocation t(2;5;13), which was verified and confirmed by molecular cytogenetics with single copy probes. This complex aberration was most likely responsible for reproductive failures in our patient. Since no high resolution molecular karyotyping (microarrays) was used, this rearrangement can only be considered to be balanced at cytogenetic level. DISCUSSION: Due to small number of reported cases of CCRs/BCTs and individual as well as unique character of such rearrangements, genetic counseling for CCRs carriers is complex and requires detailed pedigree analysis, as well as extended clinical and genetic testing.
format Online
Article
Text
id pubmed-4243319
institution National Center for Biotechnology Information
language English
publishDate 2014
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-42433192014-11-26 Complex balanced chromosomal translocation t(2;5;13) (p21;p15;q22) in a woman with four reproductive failures Lazarczyk, Ewelina Drozniewska, Malgorzata Pasinska, Magdalena Stasiewicz-Jarocka, Beata Midro, Alina T Haus, Olga Mol Cytogenet Case Report BACKGROUND: Balanced complex translocations (BCTs) are rare events, they may result in reproductive failures: spontaneous abortions, missed abortions, stillbirths, congenital malformations in children, and male infertility. BCTs belong to the group of complex chromosome rearrangements (CCRs) – up to date about 260 cases were described. RESULTS: The described patient and her husband were referred to genetic counseling clinic because of four reproductive failures. GTG-banded chromosome analysis revealed presence of apparently balanced complex translocation t(2;5;13), which was verified and confirmed by molecular cytogenetics with single copy probes. This complex aberration was most likely responsible for reproductive failures in our patient. Since no high resolution molecular karyotyping (microarrays) was used, this rearrangement can only be considered to be balanced at cytogenetic level. DISCUSSION: Due to small number of reported cases of CCRs/BCTs and individual as well as unique character of such rearrangements, genetic counseling for CCRs carriers is complex and requires detailed pedigree analysis, as well as extended clinical and genetic testing. BioMed Central 2014-11-19 /pmc/articles/PMC4243319/ /pubmed/25426170 http://dx.doi.org/10.1186/s13039-014-0083-6 Text en © Lazarczyk et al.; licensee BioMed Central Ltd. 2014 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Lazarczyk, Ewelina
Drozniewska, Malgorzata
Pasinska, Magdalena
Stasiewicz-Jarocka, Beata
Midro, Alina T
Haus, Olga
Complex balanced chromosomal translocation t(2;5;13) (p21;p15;q22) in a woman with four reproductive failures
title Complex balanced chromosomal translocation t(2;5;13) (p21;p15;q22) in a woman with four reproductive failures
title_full Complex balanced chromosomal translocation t(2;5;13) (p21;p15;q22) in a woman with four reproductive failures
title_fullStr Complex balanced chromosomal translocation t(2;5;13) (p21;p15;q22) in a woman with four reproductive failures
title_full_unstemmed Complex balanced chromosomal translocation t(2;5;13) (p21;p15;q22) in a woman with four reproductive failures
title_short Complex balanced chromosomal translocation t(2;5;13) (p21;p15;q22) in a woman with four reproductive failures
title_sort complex balanced chromosomal translocation t(2;5;13) (p21;p15;q22) in a woman with four reproductive failures
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4243319/
https://www.ncbi.nlm.nih.gov/pubmed/25426170
http://dx.doi.org/10.1186/s13039-014-0083-6
work_keys_str_mv AT lazarczykewelina complexbalancedchromosomaltranslocationt2513p21p15q22inawomanwithfourreproductivefailures
AT drozniewskamalgorzata complexbalancedchromosomaltranslocationt2513p21p15q22inawomanwithfourreproductivefailures
AT pasinskamagdalena complexbalancedchromosomaltranslocationt2513p21p15q22inawomanwithfourreproductivefailures
AT stasiewiczjarockabeata complexbalancedchromosomaltranslocationt2513p21p15q22inawomanwithfourreproductivefailures
AT midroalinat complexbalancedchromosomaltranslocationt2513p21p15q22inawomanwithfourreproductivefailures
AT hausolga complexbalancedchromosomaltranslocationt2513p21p15q22inawomanwithfourreproductivefailures