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Assessing the impact of Copy Number Variation on severe spermatogenic impairment with exome data
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Orientador(es)
Resumo(s)
Background: Azoospermia, the most severe form of male infertility, affects approximately 1% of men worldwide and in the great
majority of the cases the etiology of the disease remains unidentified. Given the large number of genes involved in
spermatogenesis it is likely that a proportion of cases of idiopathic azoospermia have a genetic basis. We have
previously described, using SNP arrays, an excess of low frequency copy number variants (CNVs) in both the
autosomes and the sex chromosomes in non-obstructive azoospermia (NOA) suggesting an heterogeneous genetic
ethiology for this condition.
Descrição
Palavras-chave
CNV Azoospermia Male Infertility Doenças Genéticas