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Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency

✍ Scribed by S. Balasubramaniam; C. Rudduck; B. Bennetts; G. Peters; B. Wilcken; C. Ellaway


Book ID
116988705
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
982 KB
Volume
99
Category
Article
ISSN
1096-7192

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Ornithine transcarbamylase (OTC) deficie
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A girl with ornithine transcarbamylase (OTC) deficiency was investigated for molecular and cytogenetic abnormalities that might explain this phenotype. Analysis with polymorphic DNA markers indicated that the patient did not inherit paternal alleles of the OTC locus, but that she did inherit the pro