PMID: 12194669Aug 27, 2002

Classification of oral clefts by affection site and laterality: a genotype-phenotype correlation study

Orthodontics & Craniofacial Research
Antonio FarinaP Carinci


The aim of this study was to classify the phenotypes found in a series of patients with non-syndromic cleft lip (CL) with or without cleft palate (CP) and isolated cleft palate. Additionally, the frequency distribution of cases belonging to families linked to markers on chromosomes 6 and 2 within these phenotypic patterns were estimated. A retrospective examination of all the available affected cases collected in Italy. Ninety-seven affected subjects aged 5-18 years belonging to 38 families were considered. Patterns were identified by variance of the cleft (lip, primary palate, secondary palate) and stratified according to the side of occurrence (right, left, or bilateral). Latent class analysis was used as main statistical tool for carrying out the results. Three homogenous classes were identified (P < 0.0001) by means of latent class analysis. Individuals were assigned to the most suited class. All three variables (lip, primary and secondary cleft palate) generated a specific class. Optimal findings were reported in cases having 'any isolated cleft lip' (class 1); 'secondary CP with or without bilateral/right primary cleft palate + bilateral/right cleft lip' (class 2); and 'left primary cleft palate + left/bilateral cleft lip...Continue Reading


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Related Concepts

Chromosomes, Human, Pair 2
Chromosomes, Human, Pair 6
Cleft Lip
Cleft Palate, Isolated
Genetic Markers
Genetic Linkage Analysis
Retrospective Studies

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