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

ABSTRACT: 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.

SUBMITTER: George AM

PROVIDER: S-EPMC3326281 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature

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

George A M AM Love D R DR Hayes I I Tsang B B

Molecular syndromology 20111231 2

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. ...[more]

PMID: 22511894

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Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

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