Abstract
Backgound: Almost all cases of DiGeorge syndrome, velo-cardio-facial syndrome and conotruncal anomaly face syndrome result from a common deletion of chromosome 22q11.2. These syndromes are usually referred to as the 22q11 deletion syndrome (22q11DS), which has a wide phenotypic spectrum and an estimated incidence of one in 4000 births.
Aims: To assess the incidence and prevalence of the 22q11 deletion syndrome in the Western Götaland Region of western Sweden
Methods: Children below 16 years of age with 22q11DS in a well defined catchment area and population of the Western Götaland Region were recruited. Diagnosis of 22q11DS was confirmed using a FISH (fluorescence in situ hybridisation) test. Proven 22q11 deletion was the demonstration of one signal in 11 metaphase spreads with fair quality.
Results: During the study period in the Western Götaland Region the mean annual incidence of 22q11DS was 14.1 per 100 000 live births. During the first five years the incidence was 18.1 per 100 000 live births for the whole region and 23.4 per 100 000 live births in Gothenburg, where a multidisciplinary specialist team for 22q11 DS is based. The prevalence was 13.2 per 100 000 children below 16 years of age in the whole region and 23.3 per 100 000 in Gothenburg.
Conclusion: The number of individuals diagnosed depends on the experience and awareness of the syndrome among specialists who encounter these children and also the severity of the phenotype. The higher frequency of 22q11DS found in Gothenburg is an example of increased awareness. The true incidence and prevalence of this syndrome will only be found through population-based screening, but this would be too expensive and ethically questionable. Screening of specific risk populations would be more justified.
Full Text
The Full Text of this article is available as a PDF (169.7 KB).
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- 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]
- Devriendt K., Fryns J. P., Mortier G., van Thienen M. N., Keymolen K. The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet. 1998 Sep;35(9):789–790. doi: 10.1136/jmg.35.9.789-a. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Driscoll D. A., Budarf M. L., Emanuel B. S. A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet. 1992 May;50(5):924–933. [PMC free article] [PubMed] [Google Scholar]
- Driscoll D. A., Spinner N. B., Budarf M. L., McDonald-McGinn D. M., Zackai E. H., Goldberg R. B., Shprintzen R. J., Saal H. M., Zonana J., Jones M. C. Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am J Med Genet. 1992 Sep 15;44(2):261–268. doi: 10.1002/ajmg.1320440237. [DOI] [PubMed] [Google Scholar]
- Goodship J., Cross I., LiLing J., Wren C. A population study of chromosome 22q11 deletions in infancy. Arch Dis Child. 1998 Oct;79(4):348–351. doi: 10.1136/adc.79.4.348. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Johannesson T., Holmqvist D., Martinsson T., Wahlström J. An improved technique for chromosome preparations from human lymphocytes. Hereditas. 1991;115(3):295–297. doi: 10.1111/j.1601-5223.1992.tb00573.x. [DOI] [PubMed] [Google Scholar]
- McDonald-McGinn D. M., Kirschner R., Goldmuntz E., Sullivan K., Eicher P., Gerdes M., Moss E., Solot C., Wang P., Jacobs I. The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns. 1999;10(1):11–24. [PubMed] [Google Scholar]
- Scambler P. J., Kelly D., Lindsay E., Williamson R., Goldberg R., Shprintzen R., Wilson D. I., Goodship J. A., Cross I. E., Burn J. Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. Lancet. 1992 May 9;339(8802):1138–1139. doi: 10.1016/0140-6736(92)90734-k. [DOI] [PubMed] [Google Scholar]
- Scambler P. J. The 22q11 deletion syndromes. Hum Mol Genet. 2000 Oct;9(16):2421–2426. doi: 10.1093/hmg/9.16.2421. [DOI] [PubMed] [Google Scholar]
- Tobias E. S., Morrison N., Whiteford M. L., Tolmie J. L. Towards earlier diagnosis of 22q11 deletions. Arch Dis Child. 1999 Dec;81(6):513–514. doi: 10.1136/adc.81.6.513. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Tézenas Du Montcel S., Mendizabai H., Aymé S., Lévy A., Philip N. Prevalence of 22q11 microdeletion. J Med Genet. 1996 Aug;33(8):719–719. doi: 10.1136/jmg.33.8.719. [DOI] [PMC free article] [PubMed] [Google Scholar]