Trisomy 12p mosaicism syndrome in a patient with hypopigmented cutaneous mosaicism and three cell lines in peripheral blood

Author:

Porcar Saura Saray1ORCID,Díaz Giménez Macarena2,Guillén‐Climent Santiago1ORCID,Villar Cristina3,Ruiz Quilez Ana2,Abellán Sanchez Maria Rosario2,Cuesta Peredo Ana2,Martín Jose M.1

Affiliation:

1. Department of Dermatology Clinical University Hospital University of Valencia Valencia Spain

2. Department of Genetics Clinical University Hospital University of Valencia Valencia Spain

3. Deparment of Pediatrics Clinical University Hospital University of Valencia Valencia Spain

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Reference10 articles.

1. Identification of partial 12 trisomy by quinacrine fluorescence

2. The natural history of trisomy 12p

3. Trisomy 12p mosaicism syndrome;Karki CB;J Ment Defic Res,1990

4. Trisomy 12p syndrome. De novo occurrence of mosaic trisomy 12p in a mentally retarded boy;Kundo I;Hum Genet,1979

5. Trisomy 12p Syndrome: A Chromosomal Disorder Associated with Generalized 3-Hz Spike and Wave Discharges

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