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Prenatal Diagnosis of a New Case: De Novo Balanced Non-Robertsonian Translocation Involving t(15;22)(p11.2;q11.2)

The balanced non-Robertsonian translocation (ROB) associated with acrocentric chromosomes is an unusual phenomenon. We report the case of rare non-ROB involving chromosomes 15 and 22 with cytogenetic and molecular cytogenetic findings of 46,XY,t(15;22)(p11.2;q11.2). To the best of our knowledge, t(1...

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Autores principales: Atli, Eİ, Gurkan, H, Atli, E, Tozkir, H, Varol, GF, İnan, C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454237/
https://www.ncbi.nlm.nih.gov/pubmed/30984529
http://dx.doi.org/10.2478/bjmg-2018-0020
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author Atli, Eİ
Gurkan, H
Atli, E
Tozkir, H
Varol, GF
İnan, C
author_facet Atli, Eİ
Gurkan, H
Atli, E
Tozkir, H
Varol, GF
İnan, C
author_sort Atli, Eİ
collection PubMed
description The balanced non-Robertsonian translocation (ROB) associated with acrocentric chromosomes is an unusual phenomenon. We report the case of rare non-ROB involving chromosomes 15 and 22 with cytogenetic and molecular cytogenetic findings of 46,XY,t(15;22)(p11.2;q11.2). To the best of our knowledge, t(15;22) is the first report of this breakpoint that is not the usual non-ROB. The karyotype of the chorionic villus cell was 46,XY,t(15;22)(p11.2; q11.2) from two different initial cultures. This is different from the usual non-ROB of acrocentric chromosomes. Comparative genomic hybridization has been performed to determine the chromosomal origin. Non-Robertsonian translocation associated with acrocentric chromosomes is an unusual event and only a few cases have been reported. In this study, we observed acrocentric chromosomes 15 and 22 as a rarely balanced non-ROB, where satellites of chromosome 15 translocated to chromosome 22 and part of chromosome 22 were translocated to chromosome 15. To the best of our knowledge, our patient is the first case reported in the literature for this translocation in prenatal and postnatal periods.
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spelling pubmed-64542372019-04-12 Prenatal Diagnosis of a New Case: De Novo Balanced Non-Robertsonian Translocation Involving t(15;22)(p11.2;q11.2) Atli, Eİ Gurkan, H Atli, E Tozkir, H Varol, GF İnan, C Balkan J Med Genet Case Report The balanced non-Robertsonian translocation (ROB) associated with acrocentric chromosomes is an unusual phenomenon. We report the case of rare non-ROB involving chromosomes 15 and 22 with cytogenetic and molecular cytogenetic findings of 46,XY,t(15;22)(p11.2;q11.2). To the best of our knowledge, t(15;22) is the first report of this breakpoint that is not the usual non-ROB. The karyotype of the chorionic villus cell was 46,XY,t(15;22)(p11.2; q11.2) from two different initial cultures. This is different from the usual non-ROB of acrocentric chromosomes. Comparative genomic hybridization has been performed to determine the chromosomal origin. Non-Robertsonian translocation associated with acrocentric chromosomes is an unusual event and only a few cases have been reported. In this study, we observed acrocentric chromosomes 15 and 22 as a rarely balanced non-ROB, where satellites of chromosome 15 translocated to chromosome 22 and part of chromosome 22 were translocated to chromosome 15. To the best of our knowledge, our patient is the first case reported in the literature for this translocation in prenatal and postnatal periods. Sciendo 2018-12-31 /pmc/articles/PMC6454237/ /pubmed/30984529 http://dx.doi.org/10.2478/bjmg-2018-0020 Text en © 2018 Atli Eİ, Gurkan H, Atli E, Tozkir H, Varol GF, İnan C, 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
Atli, Eİ
Gurkan, H
Atli, E
Tozkir, H
Varol, GF
İnan, C
Prenatal Diagnosis of a New Case: De Novo Balanced Non-Robertsonian Translocation Involving t(15;22)(p11.2;q11.2)
title Prenatal Diagnosis of a New Case: De Novo Balanced Non-Robertsonian Translocation Involving t(15;22)(p11.2;q11.2)
title_full Prenatal Diagnosis of a New Case: De Novo Balanced Non-Robertsonian Translocation Involving t(15;22)(p11.2;q11.2)
title_fullStr Prenatal Diagnosis of a New Case: De Novo Balanced Non-Robertsonian Translocation Involving t(15;22)(p11.2;q11.2)
title_full_unstemmed Prenatal Diagnosis of a New Case: De Novo Balanced Non-Robertsonian Translocation Involving t(15;22)(p11.2;q11.2)
title_short Prenatal Diagnosis of a New Case: De Novo Balanced Non-Robertsonian Translocation Involving t(15;22)(p11.2;q11.2)
title_sort prenatal diagnosis of a new case: de novo balanced non-robertsonian translocation involving t(15;22)(p11.2;q11.2)
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454237/
https://www.ncbi.nlm.nih.gov/pubmed/30984529
http://dx.doi.org/10.2478/bjmg-2018-0020
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