Toriello-Carey syndrome and unbalanced translocation t(8;18)(p12;q22)
β Scribed by Martin-Denavit, T. ;Till, M. ;Plauchu, H.
- Book ID
- 101453452
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 68 KB
- Volume
- 128A
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
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
A case of partial trisomy 9 is described in a mentally retarded and dysmorphic child, confirming that this chromosome unbalance results in a characteristic clinical entity. This trisomy arose through aberrant segregation of translocation chromosome during meiosis in the patient's mother, who is a ba