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  • 标题:A case of partial trisomy 3p syndrome with rare clinical manifestations
  • 本地全文:下载
  • 作者:Han, Dong Hoon ; Chang, Ji Young ; Lee, Woo In
  • 期刊名称:Korean Journal of Pediatrics
  • 印刷版ISSN:1738-1061
  • 出版年度:2012
  • 卷号:55
  • 期号:3
  • 页码:107-110
  • DOI:10.3345/kjp.2012.55.3.107
  • 语种:English
  • 出版社:The Korean Pediatric Society
  • 摘要:

    Partial trisomy 3p results from either unbalanced translocation or de novo duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, female newborn was transferred to our clinic. She had cleft lip-plate, dysgenesis of the corpus callosum, patent ductus arteriosus, pulmonary hypertension, and severe right-sided hydronephrosis, associated with ureteropelvic junction obstruction. Cytogenetic investigation revealed partial trisomy 3p; 46,XX,der(4)t(3;4) (p21.1;p16). The karyotype of her father showed a balanced translocation, t(3;4)(p21.1;p16). Therefore, the size of duplication can be an important factor.

  • 关键词:Partial trisomy 3p; Corpus callosum dysgenesis; Cleft lip-palate; Unbalanced translocation
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