Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/2707
Título: A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia
Autor: Seabra, Catarina M.
Quental, Sofia
Paula Neto, Ana
Carvalho, Filipa
Gonçalves, João
Paulo Oliveira, João
Fernandes, Susana
Sousa, Mário
Barros, Alberto
Amorim, António
Lopes, Alexandra M.
Palavras-chave: Azoospermia
WT1
Cryptorchidism
Male Infertility
Microdeletion
Doenças Genéticas
WT1 Cryptic Deletion
Multiplex Ligation-dependent Probe Amplification
Nonallelic Homologous Recombination
Data: 16-Mai-2014
Editora: Elsevier/Reproductive Healthcare
Citação: Reprod Biomed Online. 2014 Sep;29(3):388-91. doi: 10.1016/j.rbmo.2014.04.017. Epub 2014 May 16
Resumo: 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, QSER1, DEPDC7, TCP11L1, CSTF3 and HIPK3) and positioned the breakpoints within highly homologous repetitive elements. As far as is known, this is the smallest deletion as-yet described encompassing the WT1 gene and was detected only once in a total of 32 Portuguese patients with isolated uni- or bilateral cryptorchidism. These findings suggest that molecular analysis in patients with genitourinary features suggestive of WT1 impairment, namely cryptorchidism and renal abnormalities, may reveal cryptic genetic defects.
Peer review: yes
URI: http://hdl.handle.net/10400.18/2707
DOI: 10.1016/j.rbmo.2014.04.017
ISSN: 1472-6483
Versão do Editor: http://www.sciencedirect.com/science/article/pii/S1472648314002569
Aparece nas colecções:DGH - Artigos em revistas internacionais

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