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...
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