Mendelian inheritance of isolated nonsyndromic cleft palate
| Autor: | James F. Reynolds, John M. Opitz, Celia I. Kaye, Beverly R. Rollnick |
|---|---|
| Rok vydání: | 1986 |
| Předmět: |
Adult
Male Risk Heterozygote X Chromosome Adolescent Genetic Linkage Genetic counseling Genes Recessive Biology symbols.namesake Recessive inheritance Recurrence Humans Child Genetics (clinical) X-linked recessive inheritance Genes Dominant Genetics Inheritance (genetic algorithm) Infant Middle Aged Pedigree Cleft Palate White (mutation) Uvula Submucous cleft palate Absent uvula Mendelian inheritance symbols Female |
| Zdroj: | American Journal of Medical Genetics. 24:465-473 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.1320240309 |
| Popis: | Isolated, apparently nonsyndromic cleft palate (CP) is thought to be etiologically heterogeneous. The multifactorial threshold explanation for CP is postulated in most cases. Mendelian inheritance has been documented in 3 families. We report on three unrelated white families with 17 relatives in several generations affected with CP, including submucous CP and bifid/absent uvula. We could find no evidence of a cleft syndrome. In one family, the pattern is consistent with autosomal dominant inheritance. In 2 families, the pattern is consistent with X-linked recessive inheritance. The specific findings and their implications for family evaluation and genetic counseling are discussed. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text