Article ID Journal Published Year Pages File Type
2814230 European Journal of Medical Genetics 2008 6 Pages PDF
Abstract

We report on a healthy man with high normal intelligence, minor dysmorphic features and infertility due to hypogonadism and azoospermia. Cytogenetic analysis showed a 6.7 Mb duplication in chromosome band 11q24.2q25, which could be confirmed with FISH and molecular karyotyping using an Affymetrix GeneChip Human Mapping 250 K Nsp SNP array.

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Life Sciences Biochemistry, Genetics and Molecular Biology Genetics
Preview
6.7 Mb interstitial duplication in chromosome band 11q24.2q25 associated with infertility, minor dysmorphic features and normal psychomotor development
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