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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Bibliographic Details
Main Author: Seabra, Catarina M. (author)
Other Authors: 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)
Format: article
Language:eng
Published: 2015
Subjects:
Azoospermia
WT1
Cryptorchidism
Male Infertility
Microdeletion
Doenças Genéticas
WT1 Cryptic Deletion
Multiplex Ligation-dependent Probe Amplification
Nonallelic Homologous Recombination
Online Access:http://hdl.handle.net/10400.18/2707
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/2707

Internet

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

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