A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1–q12.1 in a healthy man

Here we report on a healthy and fertile 30 years old man, who was carrier of a small supernumerary marker chromosome (sSMC). The application of molecular techniques such as fluorescence in situ hybridisation (FISH), microdissection and reverse painting, helped to characterize the sSMC which resulted...

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Detalles Bibliográficos
Autores principales: Rodríguez, Laura, Liehr, Tomas, Martínez-Fernández, María Luisa, Lara, Ana, Torres, Antonio, Martínez-Frías, María Luisa
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2375880/
https://www.ncbi.nlm.nih.gov/pubmed/18471313
http://dx.doi.org/10.1186/1755-8166-1-4
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author Rodríguez, Laura
Liehr, Tomas
Martínez-Fernández, María Luisa
Lara, Ana
Torres, Antonio
Martínez-Frías, María Luisa
author_facet Rodríguez, Laura
Liehr, Tomas
Martínez-Fernández, María Luisa
Lara, Ana
Torres, Antonio
Martínez-Frías, María Luisa
author_sort Rodríguez, Laura
collection PubMed
description Here we report on a healthy and fertile 30 years old man, who was carrier of a small supernumerary marker chromosome (sSMC). The application of molecular techniques such as fluorescence in situ hybridisation (FISH), microdissection and reverse painting, helped to characterize the sSMC which resulted to be derived from chromosome 16. In fact, the presence of euchromatin material from the long arm (16q) in the sSMC was demonstrated, and the karyotype can be written as mos 47, XY,+min(16)(:p11.1->q12.1:)[20]/46, XY [10].
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spelling pubmed-23758802008-05-10 A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1–q12.1 in a healthy man Rodríguez, Laura Liehr, Tomas Martínez-Fernández, María Luisa Lara, Ana Torres, Antonio Martínez-Frías, María Luisa Mol Cytogenet Case Report Here we report on a healthy and fertile 30 years old man, who was carrier of a small supernumerary marker chromosome (sSMC). The application of molecular techniques such as fluorescence in situ hybridisation (FISH), microdissection and reverse painting, helped to characterize the sSMC which resulted to be derived from chromosome 16. In fact, the presence of euchromatin material from the long arm (16q) in the sSMC was demonstrated, and the karyotype can be written as mos 47, XY,+min(16)(:p11.1->q12.1:)[20]/46, XY [10]. BioMed Central 2008-04-02 /pmc/articles/PMC2375880/ /pubmed/18471313 http://dx.doi.org/10.1186/1755-8166-1-4 Text en Copyright © 2008 Rodríguez 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 Case Report
Rodríguez, Laura
Liehr, Tomas
Martínez-Fernández, María Luisa
Lara, Ana
Torres, Antonio
Martínez-Frías, María Luisa
A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1–q12.1 in a healthy man
title A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1–q12.1 in a healthy man
title_full A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1–q12.1 in a healthy man
title_fullStr A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1–q12.1 in a healthy man
title_full_unstemmed A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1–q12.1 in a healthy man
title_short A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1–q12.1 in a healthy man
title_sort new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1–q12.1 in a healthy man
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2375880/
https://www.ncbi.nlm.nih.gov/pubmed/18471313
http://dx.doi.org/10.1186/1755-8166-1-4
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