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The clinical phenotype of the derivative (8)t(7;8)(q22;p23.3) in two siblings

Young Ok Kim, Young Kuk Cho, En Song Song, Dong Kyun Han, Ic Sun Choi, Hee Jo Baek, Chan Jong Kim, Young Jong Woo, Young Youn Choi

Clin Exp Pediatr. 2008;51(11):1241-1244. Published online November 15, 2008

We report on 2 siblings with a partial trisomy of 7q (7q22→qter) and concomitant partial monosomy of 8p (8p23.3→pter), which were shown by FISH using probes located at the telomere region of each chromosome. All the balanced translocation carriers (father and a sister) in this family had a normal phenotype. The 2 siblings with the same abnormal karyotype had similar...

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