Trisomy 12p syndrome secondary to a balanced familial translocation
β Scribed by Paulo Ricardo Gazzola Zen; Rafael Fabiano Machado Rosa; Rosana Cardoso Manique Rosa; Carla Graziadio; Giorgio Adriano Paskulin
- Book ID
- 108972927
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 206 KB
- Volume
- 52
- Category
- Article
- ISSN
- 1328-8067
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A partial trisomy for the short arm of chromosome 2 (p21 leads to pter) was observed in a severely retarded infant with facial, skeletal, genital, renal, and CNS anomalies. The phenotypically normal mother and older brother had a balanced translocation between the short arm of chromosome 2 and the l
We describe a child with a supernumerary chromosome defined as der(9)t(9;22) (q12;p11), resulting in trisomy 9p and trisomy 22p. The mother carried the balanced translocation. In G- and C-banding the derivative chromosome 9 appeared to be dicentric and to contain 22q material. Using in situ hybridiz