PMID: 12194669Aug 27, 2002

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

Orthodontics & Craniofacial Research
Antonio FarinaP Carinci

Abstract

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

References

Sep 1, 1992·Clinical Genetics·B G KousseffC A Saraceno
Apr 1, 1991·Plastic and Reconstructive Surgery·S RosensteinM Grasseschi
Oct 1, 1988·American Journal of Medical Genetics·G J Yorita, M Melnick
Oct 1, 1974·The Journal of Pediatrics·B S Schnall, D W Smith
Sep 1, 1996·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·D F WyszynskiN E Maestri
Apr 1, 1997·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·M Levin
Feb 5, 1998·American Journal of Medical Genetics·M M Tolarová, J Cervenka
Jul 27, 1999·American Journal of Human Genetics·C M BrewerD R FitzPatrick
Oct 19, 1999·Teratology·L J Paulozzi, J M Lary
Jul 1, 1947·Plastic and Reconstructive Surgery·E C PADGETT

Citations

Jan 17, 2015·Iranian Red Crescent Medical Journal·Sima TavakolinejadDaryoush Hamidi Alamdari
Nov 13, 2007·The Journal of Craniofacial Surgery·R RulloF Carinci
Aug 28, 2020·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Teresa KruseBert Braumann

Related Concepts

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

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.