[Craniosynostosis in a patient with 2q37.3 del 5q34dup: association of extra copy of MSX2 with craniosynostosis]

ABSTRACT

We report a 1-year-old boy with craniosynostosis, microcephaly, developmental delay and dysmorphic features. His karyotype was 46,XX,add2q. Chromosomal study of parents was normal. The imbalance on chromosome 2 in the patient was further defined using comparative genomic hybridization [CGH], which revealed a loss of material from 2q37.3-qter and a gain of 5q34-qter. Florescent in situ hybridization [FISH] studies using subtelomeric 2q and 5q were used to confirm 2q deletion and 5q duplication. It demonstrated 3 signals for 5q terminal and 1 signal for 2q terminal. FISH studies of parents were normal. Recently it has been proposed that an extra copy of the MSX2 gene that is mapped to 5q35.2 causes premature synostosis of the sutures via the MSX2-mediated pathway of calvarial osteogenic differentiation. Our case gives further support of the role of extra copy of MSX2 gene leading to craniosynostosis