De novo duplication (5)(q31.3q33.3): report of a patient and characterization of the duplicated region using microdissection and FISH
β Scribed by Sanchez-Garcia, J.F. ;de Die-Smulders, C.E.M. ;Weber, J.W. ;Jetten, A.G.P. ;Loneus, W.H. ;Hamers, A.J.H. ;Engelen, J.J.M.
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 168 KB
- Volume
- 100
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
We report on an interstitial duplication of the long arm of chromosome 11 [46,XX,dup(11) (q23.3)] in a girl with atypical Rett syndrome (RS). This case was discovered during a systematic cytogenetic study of RS. Fluorescent in situ hybridization including total chromosome painting and use of regiona
## 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