Trisomy of the short arm of chromosome 5 due to a de novo inversion and duplication (5)(p15.3 p13.3)
✍ Scribed by M. Cervera; S. Sánchez; B. Molina; M.A. Alcántara; V. Del Castillo; A. Carnevale; A. González-del Angel
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 122 KB
- Volume
- 136A
- Category
- Article
- ISSN
- 1552-4825
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Trisomy 5p and Miller-Dieker syndromes frequently are the result of unbalanced segregations of reciprocal translocations of chromosomes 5 and 17 with other autosomes. The critical regions for the expression of the mentioned syndromes have been mapped to 5p13→pter, and 17p13.3→pter. In this report, w
## Abstract We report the second case of a child with trisomy of the entire short arm of chromosome 17 secondary to a de novo duplication. Trisomy 17p in this patient resulted from a duplication, localized to the distal region of the long arm of the same chromosome, an abnormality not previously de