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Open Access Highly Accessed Case report

A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1–q12.1 in a healthy man

Laura Rodríguez12*, Tomas Liehr3, María Luisa Martínez-Fernández1, Ana Lara4, Antonio Torres4 and María Luisa Martínez-Frías125

Author Affiliations

1 Estudio Colaborativo Español de Malformaciones Congénitas (ECEMC) del Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain

2 Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain

3 Institut für Humangenetik und Anthropologie, Friedrich Schiller Universität Jena, Germany

4 Servicio de Pediatría, Hospital San Juan de la Cruz, Úbeda, Jaén, Spain

5 Departamento de Farmacología, Facultad de Medicina, Universidad Complutense, Madrid, Spain

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Molecular Cytogenetics 2008, 1:4  doi:10.1186/1755-8166-1-4

Published: 2 April 2008

Abstract

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].