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Ornithine transcarbamylase (OTC) deficiency in a female patient with a de novo deletion of the paternal X chromosome

✍ Scribed by Ryszard Slomski; Ingrid Braulke; Claudia Behrend; Elisabeth Schröder; Jean-Pierre Colombo; Jochen Reiss

Publisher
Springer
Year
1992
Tongue
English
Weight
363 KB
Volume
89
Category
Article
ISSN
0340-6717

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✦ Synopsis

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 proximal locus DXS7 and the long arm of chromosome X. High-resolution cytogenetic analysis of the patient indicated a deletion of Xp11.4-p21, whereas both parents had normal karyotypes. Since the mother might be heterozygous according to biochemical tests, a second mutation within the maternal OTC gene cannot be excluded.

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