Work

Novel chromosomal microduplications associated with dolichocephaly craniosynostosis

Year: 2017

Type: article

Abstract: 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.

Source: Medicine

DOI: 10.1097/md.0000000000008729

Authors: Dongyi Yu, Shuo Li, Qi Liu, Kai Zhang

Institutions: Qingdao University, Qingdao Women and Children's Hospital

Language: English

Topic: Craniofacial Disorders and Treatments

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,950