Chromosomal abnormalities in Finnish orofacial cleft patients: excess of submucous cleft patients?

Objective: The aim was to identify chromosomal regions possibly involved in the development of orofacial clefts and to compare syndromic cleft phenotypes with previous reports. Design: We have retrospectively gathered and analyzed chromosomal aberrations and phenotypes of Finnish cleft patients treated at the Cleft and Craniofacial Centre, Helsinki University Central Hospital. Setting: The study was carried out at the Cleft and Craniofacial Centre, Helsinki University Central Hospital. Patients: The cleft register contains information on about 7600 Finnish cleft patients. Main Outcome Measures: Identification of patients for further molecular analyses and identification of chromosomal regions associated with orofacial clefting. Results: We identified 37 cleft patients with chromosomal aberrations of putative research interest. Conclusions: We were able to efficiently select patients for further molecular analyses and identify chromosomal regions that might be associated with orofacial clefting. The percentage of submucous cleft patients among cleft patients with chromosomal aberrations was unexpectedly high.