Article
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.
American journal of human genetics - 1 Nov 2007
Mefford Heather C, Clauin Severine, Sharp Andrew J, Moller Rikke S, Ullmann Reinhard, Kapur Raj, Pinkel Dan, Cooper Gregory M, Ventura Mario, Ropers H Hilger, Tommerup Niels, Eichler Evan E, Bellanne-Chantelot Christine
Abstract excerpt
Most studies of genomic disorders have focused on patients with cognitive disability and/or peripheral nervous system defects. In an effort to broaden the phenotypic spectrum of this disease model, we assessed 155 autopsy samples from fetuses with well-defined developmental pathologies in regions predisposed to recurrent rearrangement, by array-based comparative genomic hybridization. We found that 6% of fetal...
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