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KMID : 1130320080510111241
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Korean Journal of Pediatrics
2008 Volume.51 No. 11 p.1241 ~ p.1244
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The clinical phenotype of the derivative (8)t(7;8)(q22;p23.3) in two siblings
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Kim Young-Ok
Cho Young-Kuk
Song Eun-Song
Han Dong-Kyun
Choi Ik-Sun
Baek Hee-Jo
Kim Chan-Jong
Woo Young-Jong
Choi Young-Youn
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Abstract
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We report on 2 siblings with a partial trisomy of 7 q (7 q2 2→qter) and concomitant partial monosomy of 8 p (8 p2 3 .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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KEYWORD
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Partial trisomy 7 q, Partial monosomy 8 p
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