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  • 标题:The clinical phenotype of the derivative (8)t(7;8)(q22;p23.3) in two siblings
  • 本地全文:下载
  • 作者:Kim, Young Ok ; Cho, Young Kuk ; Song, En Song
  • 期刊名称:Korean Journal of Pediatrics
  • 印刷版ISSN:1738-1061
  • 出版年度:2008
  • 卷号:51
  • 期号:11
  • 页码:1241-1244
  • DOI:10.3345/kjp.2008.51.11.1241
  • 语种:English
  • 出版社:The Korean Pediatric Society
  • 摘要:

    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.

  • 关键词:Partial trisomy 7q; Partial monosomy 8p
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