Eur J Med Genet. 2008 Nov-Dec;51(6):666-71. Epub 2008 Aug 12.

6.7 Mb interstitial duplication in chromosome band 11q24.2q25 associated with infertility, minor dysmorphic features and normal psychomotor development.

Göhring I, Blümlein HM, Hoyer J, Ekici AB, Trautmann U, Rauch A.

Source

Institute 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.

PMID:: 18757044; [PubMed - indexed for MEDLINE]

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