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De novo duplication (5)(q31.3q33.3): report of a patient and characterization of the duplicated region using microdissection and FISH

✍ 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

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## 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