Cytogenetic Evaluation of Cleft Lip and or or Palate - Abstract
Abstract Possible causes of congenital defects such as the common cleft palate and/or libidinal (CLP) are multifactorial. It is known that they occur as a result of both genetic and environmental risk factors. Although it seems that these defects are due to a genetic cause, the cause of most cases is still unknown. In this study, the relationship of CLP with possible cytogenetic causes was evaluated. It includes 10 children (mean 1.2 years) who were sent for cytogenetic analysis with the complaint of CLP. In this study, conventional karyotyping was performed in 10 patients who were referred to our genetics laboratory with complaints of cleft lip and/or palate. Structural and numerical CAs were found in four of the 10 patients with CLP, and a normal karyotype was found in 6 of them. Two male patients had XXY karyotype, one had 22q12 trisomy and one had pericentric inversion on chromosome 9. Our findings support that an excess of an X chromosome can affect the development of cleft palate and lip, and that the dosage of some genes in the 22q12 region contributes to CLP. It has also created new opportunities for both the advancement of our understanding of orofacial cleft (OFC)
biology and clinical research. However, molecular genetic analyzes in patients with CLP will help to fully reveal the genetic etiology of the disease.