Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report

• Main Authors: Jincheng Dai (Author), Jun Zeng (Author), Hongxi Tan (Author), Xiangsheng Cai (Author), Benqing Wu (Author)
• 格式: 圖書
• 出版: BMC, 2022-06-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

Abstract Background The deletion of a short arm fragment on chromosome 8 is a rare cause of Kallmann syndrome and spherocytosis due to deletion of the FGFR1 and ANK1 genes. Case presentation This case study describes a 4-month-old child with growth and psychomotor retardation, auricle deformity, mic...