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

doi:10.1186/1755-8166-1-4

Molecular Cytogenetics

Volume 1

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Rodríguez L
Liehr T
Martínez-Fernández ML
Lara A
Torres A
Martínez-Frías ML

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Rodríguez L
Liehr T
Martínez-Fernández ML
Lara A
Torres A
Martínez-Frías ML
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Case report

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

Laura Rodríguez¹^,2 , Tomas Liehr³ , María Luisa Martínez-Fernández¹ , Ana Lara⁴ , Antonio Torres⁴ and María Luisa Martínez-Frías¹^,2^,5

¹Estudio 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

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

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

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

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

author email corresponding author email

Molecular Cytogenetics 2008, 1:4doi: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].