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      https://www.ias.ac.in/article/fulltext/jgen/101/0037

    • Keywords

       

      Jacobsen syndrome; cleft lip and palate; congenital heart disease; copy number variation; 11q24 deletion.

    • Abstract

       

      Jacobsen syndrome (JS) is caused by the terminal deletion at the long arm of chromosome 11. It is characterized by growth retardation, intellectual disability, facial dysmorphism, and other congenital abnormalities. The subband 11q24.1 has been confirmed to be the critical region for the typical features of JS. The patient in the current study is a 2-year-old male child with prominent craniofacialabnormalities and congenital heart disease. High-resolution single-nucleotide polymorphism arrays revealed breakage in chromosome 11q beginning at 11q24.2, with complete deletion of the distal portion. We collected all available reports describing patients with breakages at 11q24.1 or 11q24.2, and compared it with the typical features of JS. We found that the phenotype of cleft lip and palate (CLP) was present in both groups of patients with no overlap region in the deletion region (between 11q21-q23 and 11q24.2-qter), which indicated that other genes may be related to CLP in JS.

    • Author Affiliations

       

      JUNDAO WANG1 TIANLI ZHAO1 ZHIPING TAN2 XUEYANG GONG1 YILIYA AHEMAITI1 LUYAO WEI1 SHIJUN HU1

      1. Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Central South University, Changsha 410011, People’s Republic of China
      2. Department of Pediatrics, The Second Xiangya Hospital of Central South University, Central South University, Changsha 410011, People’s Republic of China
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