Premium
A report of pure 7p duplication syndrome and review of the literature
Author(s) -
Papadopoulou E.,
Sifakis S.,
Sarri C.,
Gyftodimou J.,
Liehr T.,
Mrasek K.,
Kalmanti M.,
Petersen M.B.
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31538
Subject(s) - dup , gene duplication , hypotonia , trisomy , partial trisomy , chromosome , psychomotor retardation , genetics , biology , chromosome 21 , karyotype , medicine , pathology , alternative medicine , gene
We report on a case of a 9‐month‐old female infant with a direct duplication of the 7p13‐p22.1 chromosome region diagnosed by combining conventional cytogenetic, FISH, and multicolor banding (MCB) studies. Traditional G‐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 7p13‐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. © 2006 Wiley‐Liss, Inc.