Novel chromosomal microduplications associated with dolichocephaly craniosynostosis: A case report

摘要

Instruction: Craniosynostosis is a human disorder characterized by the premature fusing of the cranial sutures in infants. Point mutations in hotspot genes such as FGFRs are the well-recognized causes of syndromic craniosynostosis, but chromosomal abbreviations may also play an important role in developing this disease. Here, we report the case in China of a 2-year-boy dolichocephaly craniosynostosis. Karyotyping by both G-bind staining and array-based DNA hybridization identified microduplications on Chromosomes 8p11.22 q12.1 and 16q11.2 q21, but none of the known pathogenic mutations was detected. Conclusions: This finding not only expands knowledge on the genetic mechanism of craniosynostosis but also provides a new target for the early diagnosis of this rare disease.