Article
Pure interstitial duplication of chromosome 7q (7q31.2-->q33) in a 4-year-old girl with growth restriction, short stature, speech delay and intellectual disability.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2011
Chen C-P, Lin S-P, Chern S-R, Tsai F-J, Lee M-S, Chen Y-J, Wang W
Abstract excerpt
We report the cytogenetic and molecular characterization of a 22.3-Mb pure interstitial duplication of chromosome 7q, dup(7)(q31.2-->q33) in a 4-year-old girl with growth restriction, short stature, speech delay, inguinal hernia, strabismus and intellectual disability. We speculate that the gene dosage increase effect of the ING3 and LEP genes may be partially responsible for the phenotype of growth restriction...
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