Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosome
✍ Scribed by J. A. Arranz; I. Madrigal; E. Riudor; Ll. Armengol; M. Milà
- Publisher
- Springer
- Year
- 2007
- Tongue
- English
- Weight
- 173 KB
- Volume
- 30
- Category
- Article
- ISSN
- 0141-8955
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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
We used BAC array-based CGH to detect genomic imbalances in 187 CLL cases. Submicroscopic deletions of chromosome 22q11 were observed in 28 cases (15%), and the frequency of these deletions was second only to loss of the 13q14 region, the most common genomic aberration in CLL. Oligonucleotide-based