Unbalanced karyotype with normal phenotype in a family with translocation (8;13) (p21;q22)
✍ Scribed by A. H. J. T. Bröcker-Vriends; J. J. P. van de Kamp; J. P. M. Geraedts; S. E. Bos; Th. A. Nijenhuis
- Book ID
- 115089194
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 653 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0009-9163
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A 29-year-old male with Angelman syndrome and an unbalanced reciprocal translocation, 45,XY,-8, -15,+der(8),t(8;15)(p23.3;qll)pat, was evaluated with DNA studies. These showed the underlying mechanism to be paternal uniparental disomy. This is the second case reported of Angelman syndrome that has r