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Classification of oral clefts by affection site and laterality: a genotype-phenotype correlation study
A Farina1, D F Wyszynski, F Pezzetti
1Institute of Embryology, University of Bologna-Centre of Molecular Genetics CARISBO Foundation, Bologna, Italy.
Orthodontics & Craniofacial Research
|August 27, 2002
Summary
This study classified non-syndromic cleft lip (CL) and cleft palate (CP) phenotypes. Laterality, particularly right-sided patterns, showed a statistically significant link to genetic markers on chromosome 6.
Area of Science:
- Genetics and Developmental Biology
- Craniofacial Anomalies
- Medical Genetics
Background:
- Non-syndromic cleft lip (CL) with or without cleft palate (CP) are common congenital anomalies.
- Understanding the phenotypic variations and genetic underpinnings is crucial for diagnosis and treatment.
Purpose of the Study:
- To classify phenotypes in non-syndromic CL +/- CP and isolated cleft palate patients.
- To estimate the frequency of family linkage to chromosomal markers within these phenotypic patterns.
Main Methods:
- Retrospective analysis of 97 affected subjects (aged 5-18) from 38 Italian families.
- Phenotypic classification based on cleft variance (lip, primary/secondary palate) and laterality (right, left, bilateral).
- Latent class analysis employed for statistical pattern identification and linkage analysis.
Main Results:
- Three distinct phenotypic classes were identified: isolated cleft lip; secondary CP with right-sided CL; and left-sided CP with left-sided CL.
- A significant association was found between right-sided cleft patterns (class 2) and linkage to chromosome 6 markers.
- Left-sided cleft patterns (class 3) showed a weaker, though still significant, association with chromosome 6 linkage.
Conclusions:
- Non-syndromic CL +/- CP can be phenotypically classified based on laterality.
- Laterality of the cleft appears to be under genetic control, with distinct patterns linked to specific chromosomal regions.