Por favor, use este identificador para citar o enlazar este Item:http://hdl.handle.net/20.500.12105/7057
Título
A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1-q12.1 in a healthy man
Autor(es)
Rodriguez, Laura ISCIII | Liehr, Tomas | Martinez-Fernandez, Maria Luisa ISCIII | Lara, Ana | Torres, Antonio | Martínez-Frías, María Luisa ISCIII
Fecha de publicación
2008-04-02
Cita
Mol Cytogenet. 2008 Apr 2;1:4.
Idioma
Inglés
Tipo de documento
journal article
Resumen
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].
Versión en línea
DOI
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