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A girl with duplication 17p10-p12 associated with a dicentric chromosome

✍ Scribed by Shaw, Christine J. ;Stankiewicz, Pawel ;Christodoulou, John ;Smith, Ellie ;Jones, Kristi ;Lupski, James R.

Publisher: John Wiley and Sons
Year: 2003
Tongue: English
Weight: 123 KB
Volume: 124A
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.a.20355

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## Abstract We report a family in which six individuals were carriers of a translocation between chromosomes 8 and 12. The balanced carriers had a chromosome constitution: 46,XX or 46,XY,t(8;12)(021;p13). Six individuals in five generations were mentally retarded. Three of them were examined; their