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A report of pure 7p duplication syndrome and review of the literature

โœ Scribed by E. Papadopoulou; S. Sifakis; C. Sarri; J. Gyftodimou; T. Liehr; K. Mrasek; M. Kalmanti; M.B. Petersen

Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
142 KB
Volume
140A
Category
Article
ISSN
1552-4825

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โœฆ Synopsis

Abstract

We report on a case of a 9โ€monthโ€old female infant with a direct duplication of the 7p13โ€p22.1 chromosome region diagnosed by combining conventional cytogenetic, FISH, and multicolor banding (MCB) studies. Traditional Gโ€banding detected a partial 7p duplication, which was further demonstrated to be entirely of chromosome 7 origin by using a whole chromosome paint for chromosome 7, and derived from 7p13โ€p22.1 by MCB. The infant presented with characteristic dysmorphic features, psychomotor retardation, and generalized hypotonia. The phenotypic manifestations of partial 7p trisomy with or without other chromosome involvement are briefly reviewed. Our observations in combination with other cases confirm that 7p trisomy due to dir dup(7p) can be regarded as a defined chromosome syndrome. ยฉ 2006 Wileyโ€Liss, Inc.

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