1. Hirschsprung's disease, with a population incidence of 1 in 5000 has been noted in association with Down's syndrome, where the incidence has been estimated at 2%, with other chromosome aneuploidies, and in association with various Mendelian syndromes, such as achondroplasia and Waardenburg's syndrome.11 12 From these diverse associations, it seems probable that there are several genetic loci involved in innervation of the large bowel. The occurrence of bowel aganglionosis in two children with deletions involving bands 13q22.1-q32.1 suggests that one locus may be situated in this region
2. Interstitial deletion of long arm of chromosome 13;Camevale, A.; Frias, S.; Alcantar, R.;Ann Genet (Paris),1984
3. Partial trisomies and deletions of chromosome 13;Niebuhr, E.,1977
4. A rapid banding technique for human chromosomes;Seabright, M.;Lancet,1971
5. Clinical and psychological follow-up of two children with the 13qkaryotype. Clin Genet 1981; 20: 380A. 5 Martin NJ, Harvey PJ, Pearn JH. The ring chromosome 13 syndrome;K, Brondum Nielsen; H, Bjorner; M, Mikkelsen;Hum Genet,1982