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

Korean Journal of Pediatrics 2008;51(11):1241-1244.
Published online November 15, 2008.
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
Department of Pediatrics, Chonnam National University Medical School, Gwangju, Korea
오누이에서 발생한 derivative (8)t(7;8)(q22;p23.3) 염색체 이상 증후군의 임상 증상
김영옥, 조영국, 송은송, 한동균, 최익선, 백희조, 김찬종, 우영종, 최영륜
전남대학교 의과대학 소아과학교실
Young Ok Kim, Email: ik052@unitel.co.kr
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.
Key Words: Partial trisomy 7q, Partial monosomy 8p

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