Cytogenetic evaluation of orofacial clefts

Background: Orofacial cleft (OFC) is one of the common congenital anomalies of the face which includes cleft lip and or cleft palate that causes abnormal appearance of the face. It leads to difficulty in speech and feeding, especially in new-borns. Genetic and nongenetic factors may lead to OFCs. An association of OFC to genetic cause was assessed in the study. Methodology: Conventional karyotyping was done in 133 patients of all the age groups with OFCs (syndromic and nonsyndromic) to find out chromosomal aberrations (CAs) in OFCs, Department of Oral and Maxillofacial Surgery, MGM Dental College, Navi Mumbai directed patients to cytogenetic laboratory. Project was started after taking consent and ascent from the patient and institutional ethical approval. Results: The incidence of CAs is 2.2%, and polymorphic variations are 3.7%. Out of 133 patients 47, XXY was seen in one case and trisomy 21 was seen in two cases, polymorphic variations like pericentric inversion in chromosome 9, 16qh + and 22 pstk + were observed in one case each and 9qh+ was seen in two cases. Conclusion: The incidence of genetic involvement in terms of CAs and polymorphic variations to OFC is low. The application of molecular technique in patients with OFC will help to find out genetic involvement. Genetic counseling and precise prenatal diagnosis will prevent the incidence of OFC.