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Amyoplasia associated with a balanced de novo insertion of a segment of the long arm of chromosome 5 into chromosome 2

✍ Scribed by Eisenhut, Michael ;Weindling, Michael ;Fryer, Alan


Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
99 KB
Volume
107
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