Genetics of cleft lip and palate

Dental Development of Chinese Children with Cleft Lip and Palate

“…It also has been suggested that delayed tooth formation, hypodontia, and clefting are all the result of a prenatal insult interacting with a poorly buffered genotype (Bailit and Sung, 1968). It is possible that there is a breakdown of the polygenic system that controls the development of the diploid organism and buffers it against environmental stress (Niswander, 1963;Bhatia, 1972).…”

Spontaneous Malformations in Squirrel Monkey (Saimiri sciureus) Fetuses with Emphasis on Cleft Lip and Palate

“…Although the number of defective fetuses in this study is much too small from which to draw conclusions, it is worth noting that in humans, the occurrence of cleft lip with or without cleft palate is more common in males than in females [2,9,13]. Among the reports of cleft lip and/or palate in nonhuman primates, the sex of the animal was indicated in only one instance ; clefts of the lip, primary, and secondary palate were found in a male rhesus monkey [16].…”

“…A case of isolated secondary cleft palate has been reported by Hill [7] in the common marmoset (Callithrix jacchus = Hapale jacchus) and by Kraus and Garrett [11] in the white-lipped, saddle-backed tamarin (Saguinus fuscicollis). In a review of clefts in man, Bhatia [2] found that the incidence of cleft lip with or without cleft palate was higher than isolated cleft palate; similarly, this is also suggested in the squirrel monkey.…”

Tracing disease gene(s) in non-syndromic clefts of orofacial region: HLA haplotypic linkage by analyzing the microsatellite markers: MIB, C1_2_5, C1_4_1, and C1_2_A

“…The mode of transmission of the defect is uncertain. This has been discussed by Bhatia,[22] who pointed out that the possible main modes of transmission are either by a single mutant gene producing a large effect, or by a number of genes (polygenic inheritance), each producing a small effect which together create this condition. It should be pointed out that cytogenetic studies have failed to reveal visible alterations in chromosomal morphology of the affected individuals.…”