A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1–q12.1 in a healthy man
Autor: | Laura Rodríguez, María Luisa Martínez-Fernández, Antonio Torres, María Luisa Martínez-Frías, Ana María Bermúdez Lara, Tomas Liehr |
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Přispěvatelé: | Instituto de Salud Carlos III |
Jazyk: | angličtina |
Rok vydání: | 2008 |
Předmět: |
Biochemistry
medical Genetics medicine.medical_specialty Euchromatin lcsh:QH426-470 Biochemistry (medical) Cytogenetics Karyotype Case Report Biology medicine.disease Biochemistry lcsh:Genetics Chromosome 16 In situ hybridisation medicine Molecular Medicine Genetics(clinical) Trisomy Molecular Biology Small supernumerary marker chromosome Genetics (clinical) Microdissection |
Zdroj: | Molecular Cytogenetics, Vol 1, Iss 1, p 4 (2008) Molecular Cytogenetics Repisalud Instituto de Salud Carlos III (ISCIII) |
ISSN: | 1755-8166 |
Popis: | 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]. This work was supported by a Grant (PI020028) from the Fondo de Investigaciones Sanitarias (FIS), Instituto de Salud Carlos III. Ministerio de Sanidad y Consumo. Spain. Sí |
Databáze: | OpenAIRE |
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