Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient

We report on a phenotypically normal 41-year-old azoospermic man with a 45 chromosomes karyotype including one normal chromosome 21, one normal chromosome 22, and a der(22)ins(22;21). Array CGH showed a 1.8 Mb terminal deletion of bands 21pter to 21q21.1 and a 341 kb terminal deletion on band 21q22....

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Detalles Bibliográficos
Autores principales: Marquet, Valentine, Bourgeois, Dominique, De Mas, Philippe, Bouneau, Laurence, Vigouroux-Castera, Adeline, Molignier, Romain, Calvas, Patrick
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4574793/
https://www.ncbi.nlm.nih.gov/pubmed/26401282
http://dx.doi.org/10.1002/ccr3.313
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author Marquet, Valentine
Bourgeois, Dominique
De Mas, Philippe
Bouneau, Laurence
Vigouroux-Castera, Adeline
Molignier, Romain
Calvas, Patrick
author_facet Marquet, Valentine
Bourgeois, Dominique
De Mas, Philippe
Bouneau, Laurence
Vigouroux-Castera, Adeline
Molignier, Romain
Calvas, Patrick
author_sort Marquet, Valentine
collection PubMed
description We report on a phenotypically normal 41-year-old azoospermic man with a 45 chromosomes karyotype including one normal chromosome 21, one normal chromosome 22, and a der(22)ins(22;21). Array CGH showed a 1.8 Mb terminal deletion of bands 21pter to 21q21.1 and a 341 kb terminal deletion on band 21q22.3.
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spelling pubmed-45747932015-09-23 Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient Marquet, Valentine Bourgeois, Dominique De Mas, Philippe Bouneau, Laurence Vigouroux-Castera, Adeline Molignier, Romain Calvas, Patrick Clin Case Rep Case Reports We report on a phenotypically normal 41-year-old azoospermic man with a 45 chromosomes karyotype including one normal chromosome 21, one normal chromosome 22, and a der(22)ins(22;21). Array CGH showed a 1.8 Mb terminal deletion of bands 21pter to 21q21.1 and a 341 kb terminal deletion on band 21q22.3. John Wiley & Sons, Ltd 2015-09 2015-08-20 /pmc/articles/PMC4574793/ /pubmed/26401282 http://dx.doi.org/10.1002/ccr3.313 Text en © 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. http://creativecommons.org/licenses/by-nc/4.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
Marquet, Valentine
Bourgeois, Dominique
De Mas, Philippe
Bouneau, Laurence
Vigouroux-Castera, Adeline
Molignier, Romain
Calvas, Patrick
Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient
title Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient
title_full Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient
title_fullStr Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient
title_full_unstemmed Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient
title_short Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient
title_sort double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4574793/
https://www.ncbi.nlm.nih.gov/pubmed/26401282
http://dx.doi.org/10.1002/ccr3.313
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