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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
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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 |
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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 |
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