de novo heterozygous mutation, c.3872G>A(p.G1291D), likely pathogenic, was detected in the CHD3 gene via the next generation sequencing. Snijders Blok-Campeau syndrome was confirmed. It is an extremely rare disease with only 60 cases reported globally. This case expands the CHD3 gene mutation sites and suggests that rare diseases need to be considered and genetic tests should be performed in children with intellectual developmental delay and abnormal facial features, so as to help early diagnosis. Citation:"/> <italic>CHD3</italic>基因突变致Snijders Blok-Campeau综合征1例报告
中国当代儿科杂志
  中文版
  English Version
  ISSN 2096-9228(online)
ISSN 1008-8830(print)
CN 43-1301/R
 
中国当代儿科杂志  2021, Vol. 23 Issue (9): 965-968    DOI:10.7499/j.issn.1008-8830.2106091
病例报告 最新目录| 下期目录| 过刊浏览| 高级检索 |
CHD3基因突变致Snijders Blok-Campeau综合征1例报告
樊曦涌
北京佳景爱小心门诊部儿科,北京 100041
Snijders Blok-Campeau syndrome caused by CHD3 gene mutation: a case report
FAN Xi-Yong
Department of Pediatrics, Beijing Jiajing Aixin Clinic, Beijing 100041, China (Email: fxy404@126.com)
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