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http://dx.doi.org/10.3345/kjp.2008.51.11.1241

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

Kim, Young Ok (Department of Pediatrics, Chonnam National University Medical School)
Cho, Young Kuk (Department of Pediatrics, Chonnam National University Medical School)
Song, En Song (Department of Pediatrics, Chonnam National University Medical School)
Han, Dong Kyun (Department of Pediatrics, Chonnam National University Medical School)
Choi, Ic Sun (Department of Pediatrics, Chonnam National University Medical School)
Baek, Hee Jo (Department of Pediatrics, Chonnam National University Medical School)
Kim, Chan Jong (Department of Pediatrics, Chonnam National University Medical School)
Woo, Young Jong (Department of Pediatrics, Chonnam National University Medical School)
Choi, Young Youn (Department of Pediatrics, Chonnam National University Medical School)
Publication Information
Clinical and Experimental Pediatrics / v.51, no.11, 2008 , pp. 1241-1244 More about this Journal
Abstract
We report on 2 siblings with a partial trisomy of 7q ($7q22{\rightarrow}qter$) and concomitant partial monosomy of 8p ($8p23.3{\rightarrow}pter$), 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 multiple congenital anomalies and dysmorphic features. During the follow-up, the first male patient died in the neonatal period, but the female sibling is still alive at 2 years and 6 months of age.
Keywords
Partial trisomy 7q; Partial monosomy 8p;
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