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Korean J Pediatr. 2008 Nov;51(11):1241-1244. English. Case Report.
Kim YO , Cho YK , Song ES , Han DK , Choi IS , Baek HJ , Kim CJ , Woo YJ , Choi YY .
Department of Pediatrics, Chonnam National University Medical School, Gwangju, Korea. ik052@unitel.co.kr
Abstract

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 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.

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