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Heteromorphic variants of chromosome 9

BACKGROUND: Heterochromatic variants of pericentromere of chromosome 9 are reported and discussed since decades concerning their detailed structure and clinical meaning. However, detailed studies are scarce. Thus, here we provide the largest ever done molecular cytogenetic research based on >300...

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Autores principales: Kosyakova, Nadezda, Grigorian, Ani, Liehr, Thomas, Manvelyan, Marina, Simonyan, Isabella, Mkrtchyan, Hasmik, Aroutiounian, Rouben, Polityko, Anna D, Kulpanovich, Anna I, Egorova, Tatiana, Jaroshevich, Evgenia, Frolova, Alla, Shorokh, Natalia, Naumchik, Irina V, Volleth, Marianne, Schreyer, Isolde, Nelle, Heike, Stumm, Markus, Wegner, Rolf-Dieter, Reising-Ackermann, Gisela, Merkas, Martina, Brecevic, Lukretija, Martin, Thomas, Rodríguez, Laura, Bhatt, Samarth, Ziegler, Monika, Kreskowski, Katharina, Weise, Anja, Sazci, Ali, Vorsanova, Svetlana, Cioffi, Marcelo de Bello, Ergul, Emel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3626942/
https://www.ncbi.nlm.nih.gov/pubmed/23547710
http://dx.doi.org/10.1186/1755-8166-6-14
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author Kosyakova, Nadezda
Grigorian, Ani
Liehr, Thomas
Manvelyan, Marina
Simonyan, Isabella
Mkrtchyan, Hasmik
Aroutiounian, Rouben
Polityko, Anna D
Kulpanovich, Anna I
Egorova, Tatiana
Jaroshevich, Evgenia
Frolova, Alla
Shorokh, Natalia
Naumchik, Irina V
Volleth, Marianne
Schreyer, Isolde
Nelle, Heike
Stumm, Markus
Wegner, Rolf-Dieter
Reising-Ackermann, Gisela
Merkas, Martina
Brecevic, Lukretija
Martin, Thomas
Rodríguez, Laura
Bhatt, Samarth
Ziegler, Monika
Kreskowski, Katharina
Weise, Anja
Sazci, Ali
Vorsanova, Svetlana
Cioffi, Marcelo de Bello
Ergul, Emel
author_facet Kosyakova, Nadezda
Grigorian, Ani
Liehr, Thomas
Manvelyan, Marina
Simonyan, Isabella
Mkrtchyan, Hasmik
Aroutiounian, Rouben
Polityko, Anna D
Kulpanovich, Anna I
Egorova, Tatiana
Jaroshevich, Evgenia
Frolova, Alla
Shorokh, Natalia
Naumchik, Irina V
Volleth, Marianne
Schreyer, Isolde
Nelle, Heike
Stumm, Markus
Wegner, Rolf-Dieter
Reising-Ackermann, Gisela
Merkas, Martina
Brecevic, Lukretija
Martin, Thomas
Rodríguez, Laura
Bhatt, Samarth
Ziegler, Monika
Kreskowski, Katharina
Weise, Anja
Sazci, Ali
Vorsanova, Svetlana
Cioffi, Marcelo de Bello
Ergul, Emel
author_sort Kosyakova, Nadezda
collection PubMed
description BACKGROUND: Heterochromatic variants of pericentromere of chromosome 9 are reported and discussed since decades concerning their detailed structure and clinical meaning. However, detailed studies are scarce. Thus, here we provide the largest ever done molecular cytogenetic research based on >300 chromosome 9 heteromorphism carriers. RESULTS: In this study, 334 carriers of heterochromatic variants of chromosome 9 were included, being 192 patients from Western Europe and the remainder from Easter-European origin. A 3-color-fluorescence in situ hybridization (FISH) probe-set directed against for 9p12 to 9q13~21.1 (9het-mix) and 8 different locus-specific probes were applied for their characterization. The 9het-mix enables the characterization of 21 of the yet known 24 chromosome 9 heteromorphic patterns. In this study, 17 different variants were detected including five yet unreported; the most frequent were pericentric inversions (49.4%) followed by 9qh-variants (23.9%), variants of 9ph (11.4%), cenh (8.2%), and dicentric- (3.8%) and duplication-variants (3.3%). For reasons of simplicity, a new short nomenclature for the yet reported 24 heteromorphic patterns of chromosome 9 is suggested. Six breakpoints involved in four of the 24 variants could be narrowed down using locus-specific probes. CONCLUSIONS: Based on this largest study ever done in carriers of chromosome 9 heteromorphisms, three of the 24 detailed variants were more frequently observed in Western than in Eastern Europe. Besides, there is no clear evidence that infertility is linked to any of the 24 chromosome 9 heteromorphic variants.
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spelling pubmed-36269422013-04-17 Heteromorphic variants of chromosome 9 Kosyakova, Nadezda Grigorian, Ani Liehr, Thomas Manvelyan, Marina Simonyan, Isabella Mkrtchyan, Hasmik Aroutiounian, Rouben Polityko, Anna D Kulpanovich, Anna I Egorova, Tatiana Jaroshevich, Evgenia Frolova, Alla Shorokh, Natalia Naumchik, Irina V Volleth, Marianne Schreyer, Isolde Nelle, Heike Stumm, Markus Wegner, Rolf-Dieter Reising-Ackermann, Gisela Merkas, Martina Brecevic, Lukretija Martin, Thomas Rodríguez, Laura Bhatt, Samarth Ziegler, Monika Kreskowski, Katharina Weise, Anja Sazci, Ali Vorsanova, Svetlana Cioffi, Marcelo de Bello Ergul, Emel Mol Cytogenet Research BACKGROUND: Heterochromatic variants of pericentromere of chromosome 9 are reported and discussed since decades concerning their detailed structure and clinical meaning. However, detailed studies are scarce. Thus, here we provide the largest ever done molecular cytogenetic research based on >300 chromosome 9 heteromorphism carriers. RESULTS: In this study, 334 carriers of heterochromatic variants of chromosome 9 were included, being 192 patients from Western Europe and the remainder from Easter-European origin. A 3-color-fluorescence in situ hybridization (FISH) probe-set directed against for 9p12 to 9q13~21.1 (9het-mix) and 8 different locus-specific probes were applied for their characterization. The 9het-mix enables the characterization of 21 of the yet known 24 chromosome 9 heteromorphic patterns. In this study, 17 different variants were detected including five yet unreported; the most frequent were pericentric inversions (49.4%) followed by 9qh-variants (23.9%), variants of 9ph (11.4%), cenh (8.2%), and dicentric- (3.8%) and duplication-variants (3.3%). For reasons of simplicity, a new short nomenclature for the yet reported 24 heteromorphic patterns of chromosome 9 is suggested. Six breakpoints involved in four of the 24 variants could be narrowed down using locus-specific probes. CONCLUSIONS: Based on this largest study ever done in carriers of chromosome 9 heteromorphisms, three of the 24 detailed variants were more frequently observed in Western than in Eastern Europe. Besides, there is no clear evidence that infertility is linked to any of the 24 chromosome 9 heteromorphic variants. BioMed Central 2013-04-01 /pmc/articles/PMC3626942/ /pubmed/23547710 http://dx.doi.org/10.1186/1755-8166-6-14 Text en Copyright © 2013 Kosyakova et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research
Kosyakova, Nadezda
Grigorian, Ani
Liehr, Thomas
Manvelyan, Marina
Simonyan, Isabella
Mkrtchyan, Hasmik
Aroutiounian, Rouben
Polityko, Anna D
Kulpanovich, Anna I
Egorova, Tatiana
Jaroshevich, Evgenia
Frolova, Alla
Shorokh, Natalia
Naumchik, Irina V
Volleth, Marianne
Schreyer, Isolde
Nelle, Heike
Stumm, Markus
Wegner, Rolf-Dieter
Reising-Ackermann, Gisela
Merkas, Martina
Brecevic, Lukretija
Martin, Thomas
Rodríguez, Laura
Bhatt, Samarth
Ziegler, Monika
Kreskowski, Katharina
Weise, Anja
Sazci, Ali
Vorsanova, Svetlana
Cioffi, Marcelo de Bello
Ergul, Emel
Heteromorphic variants of chromosome 9
title Heteromorphic variants of chromosome 9
title_full Heteromorphic variants of chromosome 9
title_fullStr Heteromorphic variants of chromosome 9
title_full_unstemmed Heteromorphic variants of chromosome 9
title_short Heteromorphic variants of chromosome 9
title_sort heteromorphic variants of chromosome 9
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3626942/
https://www.ncbi.nlm.nih.gov/pubmed/23547710
http://dx.doi.org/10.1186/1755-8166-6-14
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