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Novel chromosomal microduplications associated with dolichocephaly craniosynostosis: A case report.

ABSTRACT: 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.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.

SUBMITTER: Yu D

PROVIDER: S-EPMC5728844 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature

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Novel chromosomal microduplications associated with dolichocephaly craniosynostosis: A case report.

Yu Dongyi D Li Shuo S Liu Qi Q Zhang Kai K

Medicine 20171201 49

<h4>Instruction</h4>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 microdu ...[more]

PMID: 29245229

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