2026-06-14T14:48:05Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/70572025-06-17T07:55:03Zcom_20.500.12105_2052com_20.500.12105_2051col_20.500.12105_19616
Repisalud
author
Rodriguez, Laura
author
Liehr, Tomas
author
Martinez-Fernandez, Maria Luisa
author
Lara, Ana
author
Torres, Antonio
author
Martínez-Frías, María Luisa
funder
Instituto de Salud Carlos III
2019-02-01T13:52:17Z
2019-02-01T13:52:17Z
2008-04-02
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
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].
eng
A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1-q12.1 in a healthy man
research article
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URL
https://repisalud.isciii.es/bitstreams/5e8927cb-ddf0-4de8-8a40-9101b1bbb0ca/download
File
MD5
0e996cdcc8c22189ba4924a2cba71224
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application/pdf
ANewSmallSupernumerary_2008.pdf
URL
https://repisalud.isciii.es/bitstreams/5baef0c3-7465-4ca3-a2b4-a3922f488b47/download
File
MD5
477f874eb37be6cebd9ddd85ab3a5ed2
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text/plain
ANewSmallSupernumerary_2008.pdf.txt