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J Med Genet. 1993 October; 30(10): 822–824.
PMCID: PMC1016562

Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.


The conotruncal anomaly face syndrome was described in a Japanese publication in 1976 and comprises dysmorphic facial appearance and outflow tract defects of the heart. The authors subsequently noted similarities to Shprintzen syndrome and DiGeorge syndrome. Chromosome analysis in five cases did not show a deletion at high resolution, but fluorescent in situ hybridisation using probe DO832 showed a deletion within chromosome 22q11 in all cases.

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Selected References

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  • Shprintzen RJ, Goldberg RB, Lewin ML, Sidoti EJ, Berkman MD, Argamaso RV, Young D. A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J. 1978 Jan;15(1):56–62. [PubMed]
  • Scambler PJ, Carey AH, Wyse RK, Roach S, Dumanski JP, Nordenskjold M, Williamson R. Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome. Genomics. 1991 May;10(1):201–206. [PubMed]
  • Carey AH, Kelly D, Halford S, Wadey R, Wilson D, Goodship J, Burn J, Paul T, Sharkey A, Dumanski J, et al. Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome. Am J Hum Genet. 1992 Nov;51(5):964–970. [PubMed]
  • Systemic treatment of early breast cancer by hormonal, cytotoxic, or immune therapy. 133 randomised trials involving 31,000 recurrences and 24,000 deaths among 75,000 women. Early Breast Cancer Trialists' Collaborative Group. Lancet. 1992 Jan 4;339(8784):1–15. [PubMed]
  • Driscoll DA, Spinner NB, Budarf ML, McDonald-McGinn DM, Zackai EH, Goldberg RB, Shprintzen RJ, Saal HM, Zonana J, Jones MC, et al. Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am J Med Genet. 1992 Sep 15;44(2):261–268. [PubMed]
  • Wilson DI, Goodship JA, Burn J, Cross IE, Scambler PJ. Deletions within chromosome 22q11 in familial congenital heart disease. Lancet. 1992 Sep 5;340(8819):573–575. [PubMed]
  • Wilson DI, Cross IE, Goodship JA, Brown J, Scambler PJ, Bain HH, Taylor JF, Walsh K, Bankier A, Burn J, et al. A prospective cytogenetic study of 36 cases of DiGeorge syndrome. Am J Hum Genet. 1992 Nov;51(5):957–963. [PubMed]
  • Wilson DI, Burn J, Scambler P, Goodship J. DiGeorge syndrome: part of CATCH 22. J Med Genet. 1993 Oct;30(10):852–856. [PMC free article] [PubMed]

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