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J Med Genet. 1989 February; 26(2): 100–104.
PMCID: PMC1015558

Interstitial deletion of distal 13q associated with Hirschsprung's disease.


Three cases of interstitial deletion of chromosome 13 involving the common segment 13q22.1----q32.1 are reported. In addition to the recognised clinical features of this deletion, two had Hirschsprung's disease.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Carnevale A, Frias S, Alcantar R. Interstitial deletion of long arm of chromosome 13. Ann Genet. 1984;27(1):49–52. [PubMed]
  • Seabright M. A rapid banding technique for human chromosomes. Lancet. 1971 Oct 30;2(7731):971–972. [PubMed]
  • Martin NJ, Harvey PJ, Pearn JH. The ring chromosome 13 syndrome. Hum Genet. 1982;61(1):18–23. [PubMed]
  • Serena-Lungarotti M, Calabro A, Mariotti G, Mastroiacovo PP, Provenzano S, Dallapiccola B. Interstitial deletion 13q syndromes: a report on two unrelated patients. Hum Genet. 1979;52(3):269–274. [PubMed]
  • Yunis JJ, Ramsay N. Retinoblastoma and subband deletion of chromosome 13. Am J Dis Child. 1978 Feb;132(2):161–163. [PubMed]
  • Yunis E, Zuñiga R, Ramírez E. Retinoblastoma, gross internal malformations, and deletion 13q14 leads to q31. Hum Genet. 1981;56(3):283–286. [PubMed]
  • Carmichael A, Addy DP, Shortland-Webb WR, Cameron AH, Davies IC. 13q- syndrome. Family study. Arch Dis Child. 1977 Dec;52(12):972–974. [PMC free article] [PubMed]
  • Nishikawa A, Mitomori T, Matsuura A, Inoue A, Mori H, Takahashi M. A 13q- syndrome with extensive intestinal atresia. Acta Paediatr Scand. 1985 Mar;74(2):305–308. [PubMed]
  • Branski D, Dennis NR, Neale JM, Brooks LJ. Hirschsprung's disease and Waardenburg's syndrome. Pediatrics. 1979 May;63(5):803–805. [PubMed]

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