Recurrent Transmission of a 17q12 Microdeletion and a Variable Clinical Spectrum | Zendy

Alice M. George | Zendy; Donald R. Love | Zendy; Ian Hayes | Zendy; Bobby Tsang | Zendy

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Recurrent Transmission of a 17q12 Microdeletion and a Variable Clinical Spectrum

Author(s) -

Alice M. George,

Donald R. Love,

Ian Hayes,

Bobby Tsang

Publication year - 2011

Publication title -

molecular syndromology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.609

H-Index - 36

eISSN - 1661-8777

pISSN - 1661-8769

DOI - 10.1159/000335344

Subject(s) - microdeletion syndrome , hnf1b , medicine , autism , genetics , gene , biology , phenotype , psychiatry , gene expression , homeobox

The relatively rare proximal microdeletion of 17q12 (including deletion of the HNF1B gene) is associated with the renal cysts and diabetes syndrome. Recent reports have suggested that there may also be an association between this microdeletion and learning difficulties/autism. This case report describes one of only a few reported families segregating the 17q12 microdeletion, but which highlights the nonpenetrance and variable expressivity of multiple features of this condition.

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