Microdeletion 22q11 and oesophageal atresia (original) (raw)

. 1999 Feb;36(2):137–139.

Abstract

Oesophageal atresia (OA) is a congenital defect associated with additional malformations in 30-70% of the cases. In particular, OA is a component of the VACTERL association. Since some major features of the VACTERL association, including conotruncal heart defect, radial aplasia, and anal atresia, have been found in patients with microdeletion 22q11.2 (del(22q11.2)), we have screened for del(22q11.2) by fluorescent in situ hybridisation (FISH) in 15 syndromic patients with OA. Del(22q11.2) was detected in one of them, presenting with OA, tetralogy of Fallot, anal atresia, neonatal hypocalcaemia, and subtle facial anomalies resembling those of velocardiofacial syndrome. The occurrence of del(22q11.2) in our series of patients with OA is low (1/15), but this chromosomal anomaly should be included among causative factors of malformation complexes with OA. In addition, clinical variability of del(22q11.2) syndrome is further corroborated with inclusion of OA in the list of the findings associated with the deletion. Keywords: microdeletion 22q11; oesophageal atresia; VACTERL association; velocardiofacial syndrome

Full Text

The Full Text of this article is available as a PDF (53.9 KB).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Amati F., Mari A., Digilio M. C., Mingarelli R., Marino B., Giannotti A., Novelli G., Dallapiccola B. 22q11 deletions in isolated and syndromic patients with tetralogy of Fallot. Hum Genet. 1995 May;95(5):479–482. doi: 10.1007/BF00223856. [DOI] [PubMed] [Google Scholar]
  2. Burn J., Takao A., Wilson D., Cross I., Momma K., Wadey R., Scambler P., Goodship J. Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. J Med Genet. 1993 Oct;30(10):822–824. doi: 10.1136/jmg.30.10.822. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Chittmittrapap S., Spitz L., Kiely E. M., Brereton R. J. Oesophageal atresia and associated anomalies. Arch Dis Child. 1989 Mar;64(3):364–368. doi: 10.1136/adc.64.3.364. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Devriendt K., Swillen A., Fryns J. P., Proesmans W., Gewillig M. Renal and urological tract malformations caused by a 22q11 deletion. J Med Genet. 1996 Apr;33(4):349–349. doi: 10.1136/jmg.33.4.349. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Digilio M. C., Giannotti A., Marino B., Guadagni A. M., Orzalesi M., Dallapiccola B. Radial aplasia and chromosome 22q11 deletion. J Med Genet. 1997 Nov;34(11):942–944. doi: 10.1136/jmg.34.11.942. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Digilio M. C., Marino B., Giannotti A., Dallapiccola B. Chromosome 22q11 microdeletion and isolated conotruncal heart defects. Arch Dis Child. 1997 Jan;76(1):79–80. doi: 10.1136/adc.76.1.79a. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Driscoll D. A., Salvin J., Sellinger B., Budarf M. L., McDonald-McGinn D. M., Zackai E. H., Emanuel B. S. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J Med Genet. 1993 Oct;30(10):813–817. doi: 10.1136/jmg.30.10.813. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Ein S. H., Shandling B., Wesson D., Filler R. M. Esophageal atresia with distal tracheoesophageal fistula: associated anomalies and prognosis in the 1980s. J Pediatr Surg. 1989 Oct;24(10):1055–1059. doi: 10.1016/s0022-3468(89)80214-3. [DOI] [PubMed] [Google Scholar]
  9. German J. C., Mahour G. H., Woolley M. M. Esophageal atresia and associated anomalies. J Pediatr Surg. 1976 Jun;11(3):299–306. doi: 10.1016/s0022-3468(76)80182-0. [DOI] [PubMed] [Google Scholar]
  10. Halford S., Lindsay E., Nayudu M., Carey A. H., Baldini A., Scambler P. J. Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11. Hum Mol Genet. 1993 Feb;2(2):191–196. doi: 10.1093/hmg/2.2.191. [DOI] [PubMed] [Google Scholar]
  11. Hicks L. M., Mansfield P. B. Esophageal atresia and tracheoesophageal fistula. Review of thirteen years' experience. J Thorac Cardiovasc Surg. 1981 Mar;81(3):358–363. [PubMed] [Google Scholar]
  12. Khoury M. J., Cordero J. F., Greenberg F., James L. M., Erickson J. D. A population study of the VACTERL association: evidence for its etiologic heterogeneity. Pediatrics. 1983 May;71(5):815–820. [PubMed] [Google Scholar]
  13. Louhimo I., Lindahl H. Esophageal atresia: primary results of 500 consecutively treated patients. J Pediatr Surg. 1983 Jun;18(3):217–229. doi: 10.1016/s0022-3468(83)80089-x. [DOI] [PubMed] [Google Scholar]
  14. Momma K., Kondo C., Matsuoka R., Takao A. Cardiac anomalies associated with a chromosome 22q11 deletion in patients with conotruncal anomaly face syndrome. Am J Cardiol. 1996 Sep 1;78(5):591–594. doi: 10.1016/s0002-9149(96)00374-8. [DOI] [PubMed] [Google Scholar]
  15. Pizzuti A., Novelli G., Ratti A., Amati F., Mari A., Calabrese G., Nicolis S., Silani V., Marino B., Scarlato G. UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. Hum Mol Genet. 1997 Feb;6(2):259–265. doi: 10.1093/hmg/6.2.259. [DOI] [PubMed] [Google Scholar]
  16. Spitz L., Kiely E., Brereton R. J. Esophageal atresia: five year experience with 148 cases. J Pediatr Surg. 1987 Feb;22(2):103–108. doi: 10.1016/s0022-3468(87)80420-7. [DOI] [PubMed] [Google Scholar]
  17. WATERSTON D. J., CARTER R. E., ABERDEEN E. Oesophageal atresia: tracheo-oesophageal fistula. A study of survival in 218 infants. Lancet. 1962 Apr 21;1(7234):819–822. doi: 10.1016/s0140-6736(62)91837-8. [DOI] [PubMed] [Google Scholar]
  18. Weaver D. D., Mapstone C. L., Yu P. L. The VATER association. Analysis of 46 patients. Am J Dis Child. 1986 Mar;140(3):225–229. doi: 10.1001/archpedi.1986.02140170051027. [DOI] [PubMed] [Google Scholar]
  19. Worthington S., Colley A., Fagan K., Dai K., Lipson A. H. Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome? J Med Genet. 1997 Jan;34(1):79–82. doi: 10.1136/jmg.34.1.79. [DOI] [PMC free article] [PubMed] [Google Scholar]