Familial translocation t(3q+;8q−) studied by banding with Giemsa staining
✍ Scribed by A. Amo; A. Gullón
- Publisher
- Springer
- Year
- 1972
- Tongue
- English
- Weight
- 697 KB
- Volume
- 15
- Category
- Article
- ISSN
- 0340-6717
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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
A 22/22 Robertsonian translocation has been identified in a woman with recurrent abortions by a Giemsa banding technique. Cytogenetic studies of the embryonic tissue derived from one of her spontaneous abortions have demonstrated that the aborted fetus had a 46,XX,-22,+t(22q22q) karyotype.