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

作者：Quintero Rivera Fabiola^*; Deignan Joshua L; Peredo Jane; Grody Wayne W; Crandall Barbara; Sims Maureen; Cederbaum Stephen D

来源：Molecular Genetics and Metabolism, 2010, 101(4): 413-416.

DOI：10.1016/j.ymgme.2010.08.008

• Deletion Xp11.4
• Exon 1
• OTC
• OTCD
• Chromosomal microarray analysis
• Prenatal diagnosis

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.

• 出版日期2010-12