2026-06-14T14:48:04Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/70572025-06-17T07:55:03Zcom_20.500.12105_2052com_20.500.12105_2051col_20.500.12105_19616

00925njm 22002777a 4500 dc Rodriguez, Laura author Liehr, Tomas author Martinez-Fernandez, Maria Luisa author Lara, Ana author Torres, Antonio author Martínez-Frías, María Luisa author 2008-04-02 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]. Mol Cytogenet. 2008 Apr 2;1:4. 10.1186/1755-8166-1-4 1755-8166 Molecular cytogenetics 18471313 http://hdl.handle.net/20.500.12105/7057 A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1-q12.1 in a healthy man