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Updated: May 23, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
09:16

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Published on: February 21, 2015

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

A M George1, D R Love, I Hayes

  • 1Diagnostic Genetics, LabPlus, Auckland, New Zealand.

Molecular Syndromology
|April 19, 2012
PubMed
Summary

The 17q12 microdeletion, affecting the HNF1B gene, is linked to renal cysts and diabetes. This study highlights variable symptoms and incomplete penetrance of this genetic condition in a family.

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