A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia

This article describes a patient with cryptorchidism and nonobstructive azoospermia presenting a novel microdeletion of approximately 1 Mb at 11p13. It was confirmed by multiplex ligation-dependent probe amplification that this heterozygous deletion spanned nine genes (WT1, EIF3M, CCDC73, PRRG4, QSE...

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Detalhes bibliográficos
Autor principal: Seabra, Catarina M. (author)
Outros Autores: Quental, Sofia (author), Paula Neto, Ana (author), Carvalho, Filipa (author), Gonçalves, João (author), Paulo Oliveira, João (author), Fernandes, Susana (author), Sousa, Mário (author), Barros, Alberto (author), Amorim, António (author), Lopes, Alexandra M. (author)
Formato: article
Idioma:eng
Publicado em: 2015
Assuntos:
Azoospermia
WT1
Cryptorchidism
Male Infertility
Microdeletion
Doenças Genéticas
WT1 Cryptic Deletion
Multiplex Ligation-dependent Probe Amplification
Nonallelic Homologous Recombination
Texto completo:http://hdl.handle.net/10400.18/2707
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/2707

Texto Completo

http://hdl.handle.net/10400.18/2707

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