Abd El Aziz, A., Hasanein, N., EI Shfei, S., Kassem, N. (2001). Genetic Study of Cleft Lip with or without Cleft Palate and Cleft Palate. Journal of High Institute of Public Health, 31(3), 649-658. doi: 10.21608/jhiph.2001.232534
Amal M. Abd El Aziz; Nargues M. Hasanein; Sahar A. EI Shfei; Nabila S. Kassem. "Genetic Study of Cleft Lip with or without Cleft Palate and Cleft Palate". Journal of High Institute of Public Health, 31, 3, 2001, 649-658. doi: 10.21608/jhiph.2001.232534
Abd El Aziz, A., Hasanein, N., EI Shfei, S., Kassem, N. (2001). 'Genetic Study of Cleft Lip with or without Cleft Palate and Cleft Palate', Journal of High Institute of Public Health, 31(3), pp. 649-658. doi: 10.21608/jhiph.2001.232534
Abd El Aziz, A., Hasanein, N., EI Shfei, S., Kassem, N. Genetic Study of Cleft Lip with or without Cleft Palate and Cleft Palate. Journal of High Institute of Public Health, 2001; 31(3): 649-658. doi: 10.21608/jhiph.2001.232534
Genetic Study of Cleft Lip with or without Cleft Palate and Cleft Palate
Human Genetics Department, Medical Research Institute, Alexandria University, Egypt
Abstract
Cleft lip with or without cleft palate and cleft palate are the most frequent craniofacial malformations in different populations. Its etiology remains unknown for the majority of cases. This study was carried out on 75 patients with oral clefts. They were distributed as 13.4% for cleft lip [CL], 33.3% for cleft lip and palate [CLP] and 53.3% for cleft palate [CP]. The male to female ratio was 0.83 for all cases. CL was more frequent among males, on the other hand there was a high frequency of CP among females. Familial cases were found in 8% of CP 2 of patients, they were mainly among sibs. 40% of the studied cases were descendants of consanguineous parents [with 18 % first cousins], this confirms strongly that consanguinity had determinant effect in transmission of multifactorial traits. Isolated or non-syndromic clefts constituted 60% of cases, while associated clefts with other malformations or as a part of syndrome constituted 40% of cases. Similar associated malformations were described irrespective to the type of cleft. Cytogenetic study revealed normal karyotypes in all isolated cases. Abnormal karyotypes were detected in 6 patients of the associated group, 3 trisomies, 2 monosomies and one had abnormal supernumerary chromosomal marker. Risk factors during the first trimester of pregnancy were found in 40% of cases, mainly maternal illness, infections, intake of medications and nutritional deficiencies which may have a role in development of clefting.
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