6.7 Mb interstitial duplication in chromosome band 11q24.2q25 associated with infertility, minor dysmorphic features and normal psychomotor development |
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| Authors: | Göhring Ina Blümlein Hans-Martin Hoyer Juliane Ekici Arif B Trautmann Udo Rauch Anita |
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| Institution: | aInstitute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany;bPrivate Urologic Clinic, Forchheim, Germany |
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| 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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| Keywords: | Partial trisomy 11q Duplication 11q24 Infertility Azoospermia |
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