A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus (original) (raw)

Summary

A mentally retarded boy with discrete physical findings, Hirschsprung disease (HD) and a microdeletion of 13q,del(13)(q32.3q33.2) is described. Band 13q33.1 was consistently missing in all cells. There have been, to date, 4 published cases of deletions involving the long arm of chromosome 13 associated with HD: the interstitial deletion reported here is much smaller than, and it partially overlaps with, the previously reported deletions; it could be helpful for mapping one of the genes involved in this disease.

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References

• Badner JA, Chakravarti A (1990) Waardenburg syndrome and Hirschsprung's disease: evidence for pleiotrophic effects of a single dominant gene. Am J Med Genet 35:100–104
  Google Scholar
• Badner JA, Sieber WK, Garver KL, Chakravarti A (1990) A genetic study of Hirschsprung disease. Am J Hum Genet 46:568–580
  Google Scholar
• Baumann W, Zabel B, Otte J, Weitzel D (1980) Klinisches Bild bei terminaler Deletion am langen Arm des Chromosoms Nr. 7. In: Spranger J, Tolksdorf M (eds) Proceedings of the Second Symposium “Klinische Genetik in der Pädiatrie”. Thieme, Stuttgart, pp 209–213
  Google Scholar
• Beedgen B, Nutzenadel W, Querfeld U, Weiss-Wichert P (1986) “Partial trisomy 22 and 11” due to a paternal 11;22 translocation associated with Hirschsprung disease. Eur J Pediatr 145:229–232
  Google Scholar
• Bodian M, Carter CO (1963) A family study of Hirschsprung's disease. Ann Hum Genet 26:261–277
  Google Scholar
• Boothby CB, Bower BD (1973) Cartilage hair hypoplasia. Arch Dis Child 48:918–921
  Google Scholar
• Branski D, Dennis NR, Neale JM, Brooks LJ (1979) Hirschsprung's disease and Waardenburg's syndrome. Pediatrics 63:803–805
  Google Scholar
• Frangoulis M, Taylor D (1983) Corneal opacities — a diagnostic feature of the trisomy 8 mosaic syndrome. Br J Ophthalmol 67:619–622
  CAS PubMed Google Scholar
• Fryns JP, Verresen H, Berghe H van den, Kerckvoorde J van (1974) Partial trisomy 8: trisomy of the distal part of the long arm of chromosome number 8 + (8q2) in a severly retarded and malformed girl. Hum Genet 24:241–246
  Google Scholar
• Gallien JU, Neu RL, Wynn RJ, Steinberg-Warren N, Bannerman RM (1981) An infant with duplication of 17q21→17qter. Am J Med Genet 8:111–115
  Google Scholar
• Garver KL, Law JC, Garver B (1985) Hirschsprung disease: a genetic study. Clin Genet 28:503–508
  Google Scholar
• Issa M, Potter AM, Blank CE (1976) Multiple congenital defects associated with trisomy for long arm of no. 4. J Med Genet 13:326–329
  Google Scholar
• Jarmas AL, Weaver DD, Padilla LM, Strecker E, Bender HA (1983) Hirschsprung disease: etiologic implications of unsuccessful prenatal diagnosis. Am J Med Genet 16:163–167
  Google Scholar
• Kiss P, Osztovics M (1989) Association of 13q deletion and Hirschsprung's disease. J Med Genet 26:793–794
  Google Scholar
• Lamont MA, Fitchett M, Dennis NR (1989) Interstitial deletion of distal 13q associated with Hirschsprung's disease. J Med Genet 26:100–104
  Google Scholar
• Larson LM, Wasdahl WA, Saumur JH, Coleman ML, Hall JG, Dolan CR, Schutta CJ (1982) Familial reciprocal translocation, t(2;10)(p24;q26) resulting in duplication 2p and deletion 10q. Clin Genet 21:187–195
  Google Scholar
• Le Merrer M, Briard ML, Girard S, Mulliez N, Moraine C, Imbert MC (1988) Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome. J Med Genet 25:88–95
  Google Scholar
• Lipson AH, Harvey J (1987) Three-generation transmission of Hirschsprung's disease. Clin Genet 32:175–178
  Google Scholar
• McKusick VA, Eldridge R, Hostetler JA, Ruangwit U, Egeland JA (1965) Dwarfism in the Amish. II. Cartilage-hair hypoplasia. Bull Johns Hopkins Hosp 116:285–326
  Google Scholar
• Ommen GS, McKusick VA (1979) The association of Waardenburg syndrome and Hirschsprung megacolon. Am J Med Genet 3:217–223
  Google Scholar
• Passarge E (1967) The genetics of Hirschsprung's disease: evidence for heterogeneous etiology and a study of sixty-three families. N Engl J Med 276:138–143
  Google Scholar
• Passarge E (1972) Genetic heterogeneity and recurrence of congenital intestinal aganglionosis. Birth Defects 8:63–67
  Google Scholar
• Patterson K, Toomey KE, Chandra RS (1983) Hirschsprung's disease in a 46,XY phenotypic infant girl with Smith-Lemli-Opitz syndrome. J Pediatr 103:425–427
  Google Scholar
• Sparkes RS, Sparkes MC, Kalina RE, Pagon RA, Salk DJ, Disteche CM (1984) Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13) q14. 1q22.(3). Hum Genet 68:258–259
  Google Scholar
• Spouge D, Baird PA (1985) Hirschsprung disease in a large birth cohort. Teratology 32:171–177
  Google Scholar
• Webb GC, Keith CG, Campbell NT (1988) Concurrent de novo interstitial deletion of band 2p22 and reciprocal translocation (3;7)(p21;q22). J Med Genet 25:125–127
  Google Scholar

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1. Institut für Medizinische Genetik der Universität, Rämistrasse 74, CH-8001, Zürich, Switzerland
   Armand Bottani, Yagang Xie, Frank Binkert & Albert Schinzel

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1. Armand Bottani
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2. Yagang Xie
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3. Frank Binkert
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4. Albert Schinzel
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Bottani, A., Xie, Y., Binkert, F. et al. A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus.Hum Genet 87, 748–750 (1991). https://doi.org/10.1007/BF00201741

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• Received: 22 March 1991
• Issue Date: October 1991
• DOI: https://doi.org/10.1007/BF00201741

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