Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
1999402 | Molecular Genetics and Metabolism | 2010 | 4 Pages |
Abstract
We describe the outcome of two consecutive pregnancies with a clinical presentation of ornithine transcarbamylase (OTC) deficiency (OTCD) without a molecular diagnosis. A 119 kb deletion on Xp11.4 including the OTC gene was detected in the mother. The same deletion was identified in the blood spots from deceased male newborns. In patients with a clinical and biochemical presentation of OTCD and negative OTC sequencing, whole genome or targeted chromosomal microarray analysis (CMA) with coverage of the OTC and neighboring genes should be performed as a reflex test.
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Authors
Fabiola Quintero-Rivera, Joshua L. Deignan, Jane Peredo, Wayne W. Grody, Barbara Crandall, Maureen Sims, Stephen D. Cederbaum,