Abstract
Chromosome 22q11 fluorescence in situ hybridisation (FISH) studies were performed on 33 consecutive individuals attending a paediatric cardiology clinic with tetralogy of Fallot. Seven children had 22q11 microdeletions but only four had other clinical features associated with the newly recognised chromosome 22 deletion syndrome (CATCH 22). Chromosome 22q11 FISH studies should therefore be performed on all patients with tetralogy of Fallot.
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- 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]
- Boon A. R., Farmer M. B., Roberts D. F. A family study of Fallot's tetralogy. J Med Genet. 1972 Jun;9(2):179–192. doi: 10.1136/jmg.9.2.179. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 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]
- Goldmuntz E., Driscoll D., Budarf M. L., Zackai E. H., McDonald-McGinn D. M., Biegel J. A., Emanuel B. S. Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. J Med Genet. 1993 Oct;30(10):807–812. doi: 10.1136/jmg.30.10.807. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Karr S. S., Brenner J. I., Loffredo C., Neill C. A., Rubin J. D. Tetralogy of Fallot. The spectrum of severity in a regional study, 1981-1985. Am J Dis Child. 1992 Jan;146(1):121–124. doi: 10.1001/archpedi.1992.02160130123034. [DOI] [PubMed] [Google Scholar]
- Wilson D. I., Burn J., Scambler P., Goodship J. DiGeorge syndrome: part of CATCH 22. J Med Genet. 1993 Oct;30(10):852–856. doi: 10.1136/jmg.30.10.852. [DOI] [PMC free article] [PubMed] [Google Scholar]