Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient

We report on a phenotypically normal 41-year-old azoospermic man with a 45 chromosomes karyotype including one normal chromosome 21, one normal chromosome 22, and a der(22)ins(22;21). Array CGH showed a 1.8 Mb terminal deletion of bands 21pter to 21q21.1 and a 341 kb terminal deletion on band 21q22....

Descripción completa

Detalles Bibliográficos
Autores principales: Marquet, Valentine, Bourgeois, Dominique, De Mas, Philippe, Bouneau, Laurence, Vigouroux-Castera, Adeline, Molignier, Romain, Calvas, Patrick
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4574793/
https://www.ncbi.nlm.nih.gov/pubmed/26401282
http://dx.doi.org/10.1002/ccr3.313
Descripción
Sumario:We report on a phenotypically normal 41-year-old azoospermic man with a 45 chromosomes karyotype including one normal chromosome 21, one normal chromosome 22, and a der(22)ins(22;21). Array CGH showed a 1.8 Mb terminal deletion of bands 21pter to 21q21.1 and a 341 kb terminal deletion on band 21q22.3.

Ejemplares similares