A genetic study of Hirschsprung disease.

  title={A genetic study of Hirschsprung disease.},
  author={Judith A. Badner and William K Sieber and Kenneth L Garver and Aravinda Chakravarti},
  journal={American journal of human genetics},
  volume={46 3},
Hirschsprung disease, or congenital aganglionic megacolon, is commonly assumed to be a sex-modified multifactorial trait. To test this hypothesis, complex segregation analysis was performed on data on 487 probands and their families. Demographic information on probands and the recurrence risk to relatives of probands are presented. An increased sex ratio (3.9 male:female) and an elevated risk to sibs (4%), as compared with the population incidence (0.02%), are observed, with the sex ratio… CONTINUE READING

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