María Luisa Martínez-Frías

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

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...