Abstract
Segregation and linkage analysis was performed on published data on 5 families segregating for Waardenburg syndrome (WS) and Hirschsprung disease (HRSD). Two of these families demonstrated parental consanguinity. On the basis of these families, autosomal recessive inheritance of the combination WS-HRSD has been postulated. However, a single dominant gene with pleiotropic effects leading to WS and HRSD, with a more severe phenotype in homozygotes, is more plausible. A model of gene action incorporating stochastic effects is compatible with these observations.
Original language | English (US) |
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Pages (from-to) | 100-104 |
Number of pages | 5 |
Journal | American journal of medical genetics |
Volume | 35 |
Issue number | 1 |
DOIs | |
State | Published - 1990 |
Externally published | Yes |
Keywords
- Dominance
- Neurocristopathy
- Pleiotropy
ASJC Scopus subject areas
- Genetics(clinical)