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.


METHODS
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.


METHODS
The study was carried out at the Cleft and Craniofacial Centre, Helsinki University Central Hospital.


METHODS
The cleft register contains information on about 7600 Finnish cleft patients.


METHODS
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.
Klockars
Tuomas
T
Cleft and Craniofacial Centre, Department of Plastic Surgery, Helsinki University Central Hospital, Helsinki, Finland. tuomas.klockars@fimnet.fi
Ala-Mello
Sirpa
S
Rautio
Jorma
J
D002869:Chromosome Aberrations / Q000706:statistics & numerical data*; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D005387:Finland; D006801:Humans; D008297:Male; D010641:Phenotype; D012042:Registries; D012189:Retrospective Studies