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Quintero-Rivera, F. et al.

Fabiola Quintero-Rivera, Joshua L. Deignan, Jane Peredo, Wayne W. Grody, Barbara Crandall, Maureen Sims, Stephen D. Cederbaum,

An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiency.

We describe the outcome of two consecutive pregnancies with a clinical presentation of ornithine transcarbamylase (OTC) deficiency (OTCD) without a molecular diagnosis. A 119kb 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.[1]

References

An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiency. Quintero-Rivera, F., Deignan, J.L., Peredo, J., Grody, W.W., Crandall, B., Sims, M., Cederbaum, S.D. Mol. Genet. Metab. (2010) [Pubmed]

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