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Trisomy 12p syndrome secondary to a balanced familial translocation

✍ 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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πŸ“œ SIMILAR VOLUMES


Partial trisomy for the short arm of chr
✍ Gurbax Singh Sekhon; Kutay Taysi; Richard Rath πŸ“‚ Article πŸ“… 1978 πŸ› Springer 🌐 English βš– 234 KB

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

Supernumerary chromosome inherited from
✍ Tihy, FrοΏ½dοΏ½rique; Lemyre, Emmanuelle; Dallaire, Louis; Lemieux, Nicole πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 18 KB πŸ‘ 1 views

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