DERMATOGLYPHIC ANALYSIS OF NON-SYNDROMIC ORAL CLEFTS CASES, UNAFFECTED FAMILY MEMBERS AND CONTROLSRAJAGOPALAN, SHWETHA SHRI (2016) DERMATOGLYPHIC ANALYSIS OF NON-SYNDROMIC ORAL CLEFTS CASES, UNAFFECTED FAMILY MEMBERS AND CONTROLS. Master's Thesis, University of Pittsburgh. (Unpublished)
AbstractNon-syndromic oral clefts are a complex craniofacial anomaly with a multifactorial etiology involving both genetic and environmental effects. The risk of developing clefts is influenced by generalized embryological instabilities. Our hypothesis is that, due to a shared embryological chronology between the formation of the lip/palate and fingerprints in the first trimester, individuals with oral clefts may also show abnormal dermatoglyphics. Our subjects are from 5 sites, Hungary, Pittsburgh, Madrid, Texas and Patagonia. Our study follows a case-control design: 1) Cases: Individuals with CL, CLP or CP; 2) Unaffected family members from the case families; 3) True controls, genetically unrelated individuals with no family history of clefting. Our analyses were performed on three data sets: Data set 1—All cleft types, unaffected family members, and true controls (n=1502); Data set 2—Cleft lip with or without cleft palate: CL/P individuals, unaffected family members, and true controls (n=1228): and Data set 3—Cleft palate only: CP individuals, unaffected family members, the true controls (n=570). We obtained fingerprints from all individuals in our study. Three raters designated the patterns as arch, loop and whorl. Chi-square analysis was done to evaluate the pattern frequency differences across sites, sex, and cleft types. Dissimilarity scores were calculated and tested for significance using Student’s t-test, ANOVA and regression analysis. Ridge counts were also analyzed. We set the level of significance to 0.05. We found that pattern frequency differences exist across different sites and by sex, based on the cleft status. We further observed pattern differences between the types of non-syndromic CL/P. Arches were higher in cases and unaffected family members compared to the true controls. This difference was more pronounced among females compared to males. Cases had more pattern asymmetry than unaffected family members, who had a higher asymmetry compared to true controls when all cleft types were combined. No significant ridge count differences were observed among these groups. These results support our hypothesis that individuals with oral clefts differ in their pattern frequencies and dermatoglyphic asymmetry, compared to controls. Share
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