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Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases

✍ Scribed by Irving, Melita ;Hanson, Helen ;Turnpenny, Peter ;Brewer, Carole ;Ogilvie, Caroline Mackie ;Davies, Angela ;Berg, Jonathan

Publisher: John Wiley and Sons
Year: 2003
Tongue: English
Weight: 234 KB
Volume: 123A
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.a.20220

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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