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J Med Genet. 1994 April; 31(4): 312–316.
PMCID: PMC1049804

Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion.


We present the clinical and laboratory findings in an institutionalised adult patient originally referred for autism. A high risk of colorectal cancer was predicted when an interstitial deletion of the long arm of chromosome 5, del(5)(q15q22.3), was detected in her lymphocytes and deletion of the MCC and APC genes confirmed by molecular analysis. Adenomatous polyposis coli and carcinoma of the rectum were subsequently diagnosed in the patient. She was profoundly mentally retarded, autistic, and had minor dysmorphic features consistent with those of previous patients with similar deletions. The deletion arose as a result of recombination within the small insertion loop formed at meiosis by the direct insertion (dir ins(5)(q22.3q14.2q15)) found in the patient's mother. This family further confirms the cytogenetic mapping of both MCC and APC genes to 5q22 and comparison with other recent cases suggests that both genes and their closely linked markers lie within the 5q22.1 subband.

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Selected References

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  • Herrera L, Kakati S, Gibas L, Pietrzak E, Sandberg AA. Gardner syndrome in a man with an interstitial deletion of 5q. Am J Med Genet. 1986 Nov;25(3):473–476. [PubMed]
  • Bodmer WF, Bailey CJ, Bodmer J, Bussey HJ, Ellis A, Gorman P, Lucibello FC, Murday VA, Rider SH, Scambler P, et al. Localization of the gene for familial adenomatous polyposis on chromosome 5. Nature. 1987 Aug 13;328(6131):614–616. [PubMed]
  • Leppert M, Dobbs M, Scambler P, O'Connell P, Nakamura Y, Stauffer D, Woodward S, Burt R, Hughes J, Gardner E, et al. The gene for familial polyposis coli maps to the long arm of chromosome 5. Science. 1987 Dec 4;238(4832):1411–1413. [PubMed]
  • Kinzler KW, Nilbert MC, Vogelstein B, Bryan TM, Levy DB, Smith KJ, Preisinger AC, Hamilton SR, Hedge P, Markham A, et al. Identification of a gene located at chromosome 5q21 that is mutated in colorectal cancers. Science. 1991 Mar 15;251(4999):1366–1370. [PubMed]
  • Powell SM, Zilz N, Beazer-Barclay Y, Bryan TM, Hamilton SR, Thibodeau SN, Vogelstein B, Kinzler KW. APC mutations occur early during colorectal tumorigenesis. Nature. 1992 Sep 17;359(6392):235–237. [PubMed]
  • Kinzler KW, Nilbert MC, Su LK, Vogelstein B, Bryan TM, Levy DB, Smith KJ, Preisinger AC, Hedge P, McKechnie D, et al. Identification of FAP locus genes from chromosome 5q21. Science. 1991 Aug 9;253(5020):661–665. [PubMed]
  • Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, Koyama K, Utsunomiya J, Baba S, Hedge P. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science. 1991 Aug 9;253(5020):665–669. [PubMed]
  • Hockey KA, Mulcahy MT, Montgomery P, Levitt S. Deletion of chromosome 5q and familial adenomatous polyposis. J Med Genet. 1989 Jan;26(1):61–62. [PMC free article] [PubMed]
  • Kobayashi T, Narahara K, Yokoyama Y, Ueyama S, Mohri O, Fujii T, Fujimoto M, Ohtsuki S, Tsuji K, Seino Y. Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5. Am J Med Genet. 1991 Dec 15;41(4):460–463. [PubMed]
  • Cross I, Delhanty J, Chapman P, Bowles LV, Griffin D, Wolstenholme J, Bradburn M, Brown J, Wood C, Gunn A, et al. An intrachromosomal insertion causing 5q22 deletion and familial adenomatous polyposis coli in two generations. J Med Genet. 1992 Mar;29(3):175–179. [PMC free article] [PubMed]
  • Lindgren V, Bryke CR, Ozcelik T, Yang-Feng TL, Francke U. Phenotypic, cytogenetic, and molecular studies of three patients with constitutional deletions of chromosome 5 in the region of the gene for familial adenomatous polyposis. Am J Hum Genet. 1992 May;50(5):988–997. [PubMed]
  • Hodgson SV, Coonar AS, Hanson PJ, Cottrell S, Scriven PN, Jones T, Hawley PR, Wilkinson ML. Two cases of 5q deletions in patients with familial adenomatous polyposis: possible link with Caroli's disease. J Med Genet. 1993 May;30(5):369–375. [PMC free article] [PubMed]
  • Feinberg AP, Vogelstein B. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem. 1983 Jul 1;132(1):6–13. [PubMed]
  • Cottrell S, Bodmer WF. Two MspI polymorphisms within the APC gene. Hum Mol Genet. 1992 Aug;1(5):352–352. [PubMed]
  • Gardner EJ, Rogers SW, Woodward S. Numerical and structural chromosome aberrations in cultured lymphocytes and cutaneous fibroblasts of patients with multiple adenomas of the colorectum. Cancer. 1982 Apr 1;49(7):1413–1419. [PubMed]
  • de Michelena MI, Villacorta J, Chávez J. Double chromosome anomaly: interstitial deletion 5q and reciprocal translocation (1;11)(p22;q21). Am J Med Genet. 1990 May;36(1):29–32. [PubMed]
  • Madan K, Menko FH. Intrachromosomal insertions: a case report and a review. Hum Genet. 1992 Apr;89(1):1–9. [PubMed]
  • Martin NJ, Cartwright DW, Harvey PJ. Duplication 5q(5q22----5q33): from an intrachromosomal insertion. Am J Med Genet. 1985 Jan;20(1):57–62. [PubMed]

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