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6.7 Mb interstitial duplication in chromosome band 11q24.2q25 associated with infertility, minor dysmorphic features
Ina Göhring1, Hans-Martin Blümlein, Juliane Hoyer
1Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany. igoehrin@humgenet.uni-erlangen.de
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 6.7Mb duplication in chromosome band 11q24.2q25, which could be confirmed with FISH and molecular karyotyping using an Affymetrix GeneChip Human Mapping 250K Nsp SNP array.
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