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Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism

BACKGROUND: Individuals with apparently balanced translocations, often, show no clinical findings. However, in meiosis, translocations tend to cause errors on chromosome disjunction and the ones involving sex chromosomes have particular implications for the phenotype. Male carriers of balanced X-aut...

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Autores principales: Grzesiuk, Juliana Dourado, Pereira, Ciro Silveira, Grangeiro, Carlos Henrique Paiva, Picanço-Albuquerque, Clarissa Gondim, Oliveira-Gennaro, Flávia Gaona, Machado, Filipe Brum, Medina-Acosta, Enrique, Ramos, Ester Silveira, Yoshimoto, Maisa, Martelli, Lucia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4910231/
https://www.ncbi.nlm.nih.gov/pubmed/27313662
http://dx.doi.org/10.1186/s13039-016-0249-5
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author Grzesiuk, Juliana Dourado
Pereira, Ciro Silveira
Grangeiro, Carlos Henrique Paiva
Picanço-Albuquerque, Clarissa Gondim
Oliveira-Gennaro, Flávia Gaona
Machado, Filipe Brum
Medina-Acosta, Enrique
Ramos, Ester Silveira
Yoshimoto, Maisa
Martelli, Lucia
author_facet Grzesiuk, Juliana Dourado
Pereira, Ciro Silveira
Grangeiro, Carlos Henrique Paiva
Picanço-Albuquerque, Clarissa Gondim
Oliveira-Gennaro, Flávia Gaona
Machado, Filipe Brum
Medina-Acosta, Enrique
Ramos, Ester Silveira
Yoshimoto, Maisa
Martelli, Lucia
author_sort Grzesiuk, Juliana Dourado
collection PubMed
description BACKGROUND: Individuals with apparently balanced translocations, often, show no clinical findings. However, in meiosis, translocations tend to cause errors on chromosome disjunction and the ones involving sex chromosomes have particular implications for the phenotype. Male carriers of balanced X-autosome translocations are almost invariably infertile due to interruption of the spermatogenesis, but the mechanism is not fully understood. CASE PRESENTATION: In this case report, we performed a combination of classical cytogenetics (G-banding), molecular cytogenetics (fluorescence in situ hybridization and X-chromosome inactivation study), and cytogenomics (microarray-based comparative genomic hybridization) techniques for characterization of an inherited (X;22) translocation in a family originally referred for infertility investigation. Both proband and his sister are infertile and present the maternally inherited translocation. Interestingly, the maternal grandmother was mosaic for X chromosome monosomy suggesting that the t(X;22) in the proband’s mother arose by errors at oogenesis. The presence of the same mosaicism of the X chromosome in the proband’s aunt is consistent with this consideration. Array- CGH analysis showed no constitutional pathogenic gains or losses in the translocation carriers. The X-chromosome inactivation studies revealed that the translocated X;22 was active in 99.3% of cells in the mother and in 88% of cells in the daughter. We suggest that incomplete skewing of X inactivation (>97 %) of the daughter could justify the infertility. This study is the first description of recurrent mosaicism of the X chromosome associated with a familial X-autosome translocation. CONCLUSIONS: The phenotype of infertility was probably caused by disruption of spermatogenesis due to gametogenesis specific errors resulted from meiotic pairing and segregation anomalies on the translocated chromosomes.
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spelling pubmed-49102312016-06-17 Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism Grzesiuk, Juliana Dourado Pereira, Ciro Silveira Grangeiro, Carlos Henrique Paiva Picanço-Albuquerque, Clarissa Gondim Oliveira-Gennaro, Flávia Gaona Machado, Filipe Brum Medina-Acosta, Enrique Ramos, Ester Silveira Yoshimoto, Maisa Martelli, Lucia Mol Cytogenet Case Report BACKGROUND: Individuals with apparently balanced translocations, often, show no clinical findings. However, in meiosis, translocations tend to cause errors on chromosome disjunction and the ones involving sex chromosomes have particular implications for the phenotype. Male carriers of balanced X-autosome translocations are almost invariably infertile due to interruption of the spermatogenesis, but the mechanism is not fully understood. CASE PRESENTATION: In this case report, we performed a combination of classical cytogenetics (G-banding), molecular cytogenetics (fluorescence in situ hybridization and X-chromosome inactivation study), and cytogenomics (microarray-based comparative genomic hybridization) techniques for characterization of an inherited (X;22) translocation in a family originally referred for infertility investigation. Both proband and his sister are infertile and present the maternally inherited translocation. Interestingly, the maternal grandmother was mosaic for X chromosome monosomy suggesting that the t(X;22) in the proband’s mother arose by errors at oogenesis. The presence of the same mosaicism of the X chromosome in the proband’s aunt is consistent with this consideration. Array- CGH analysis showed no constitutional pathogenic gains or losses in the translocation carriers. The X-chromosome inactivation studies revealed that the translocated X;22 was active in 99.3% of cells in the mother and in 88% of cells in the daughter. We suggest that incomplete skewing of X inactivation (>97 %) of the daughter could justify the infertility. This study is the first description of recurrent mosaicism of the X chromosome associated with a familial X-autosome translocation. CONCLUSIONS: The phenotype of infertility was probably caused by disruption of spermatogenesis due to gametogenesis specific errors resulted from meiotic pairing and segregation anomalies on the translocated chromosomes. BioMed Central 2016-06-15 /pmc/articles/PMC4910231/ /pubmed/27313662 http://dx.doi.org/10.1186/s13039-016-0249-5 Text en © Grzesiuk et al. 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. 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
Grzesiuk, Juliana Dourado
Pereira, Ciro Silveira
Grangeiro, Carlos Henrique Paiva
Picanço-Albuquerque, Clarissa Gondim
Oliveira-Gennaro, Flávia Gaona
Machado, Filipe Brum
Medina-Acosta, Enrique
Ramos, Ester Silveira
Yoshimoto, Maisa
Martelli, Lucia
Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism
title Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism
title_full Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism
title_fullStr Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism
title_full_unstemmed Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism
title_short Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism
title_sort familial chromosomal translocation x; 22 associated with infertility and recurrent x mosaicism
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4910231/
https://www.ncbi.nlm.nih.gov/pubmed/27313662
http://dx.doi.org/10.1186/s13039-016-0249-5
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