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Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.
Open accessAbstract
Deletions of chromosome 22q11 have been seen in association with DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). In the present study, we analysed samples from 76 patients referred with a diagnosis of either DGS or VCFS to determine the prevalence of 22q11 deletions in these disorders. Using probes and cosmids from the DiGeorge critical region (DGCR), deletions of 22q11 were detected in 83% of DGS and 68% of VCFS patients by DNA dosage analysis, fluorescence in situ hybridisation, or by both methods. Combined with our previously reported patients, deletions have been detected in 88% of DGS and 76% of VCFS patients. The results of prenatal testing for 22q11 deletions by FISH in two pregnancies are presented. We conclude that FISH is an efficient and direct method for the detection of 22q11 deletions in subjects with features of DGS and VCFS as well as in pregnancies at high risk for a deletion.
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Cited by
McDonald-McGinn, D. M., Sullivan, K. E., Marino, B., Philip, N., Swillen, A., Vorstman, J. A. S., Zackai, E. H., Emanuel, B. S., Vermeesch, J. R., Morrow, B. E., et al. (2015) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2015.71 · Cited by 2,236
Self-citationSchizophrenia susceptibility associated with interstitial deletions of chromosome 22q11.
Karayiorgou, M., Morris, M. A., Morrow, B., Shprintzen, R. J., Goldberg, R., Borrow, J., Gos, A., Nestadt, G., Wolyniec, P. S., & Lasseter, V. K. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.17.7612 · Cited by 628
Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome
Bassett, A. S., McDonald-McGinn, D. M., Devriendt, K., Digilio, M. C., Goldenberg, P., Habel, A., Marino, B., Oskarsdottir, S., Philip, N., Sullivan, K., et al. (2011) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2011.02.039 · Cited by 597
Self-citationFrequency of 22q11 deletions in patients with conotruncal defects
Goldmuntz, E., Clark, B. J., Mitchell, L. E., Jawad, A. F., Cuneo, B. F., Reed, L., McDonald-McGinn, D., Chien, P., Feuer, J., Zackai, E. H., et al. (1998) · Journal of the American College of Cardiology · doi:10.1016/s0735-1097(98)00259-9 · Cited by 592
Self-citationVelo‐cardio‐facial syndrome: 30 Years of study
Shprintzen, R. J. (2008) · Developmental Disabilities Research Reviews · doi:10.1002/ddrr.2 · Cited by 462
Metadata
- Authors
- Driscoll, D. A., Salvin, J., Sellinger, B., Budarf, M. L., McDonald-McGinn, D. M., Zackai, E. H., & Emanuel, B. S.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 1993-10
- Volume
- 30
- Issue
- 10
- Pages
- 813-817
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2021106046
- Cited by
- 487
- References
- 0
- FWCI
- 14.77
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. https://app.cochat.ai/papers/10.1136/jmg.30.10.813
- The paper
- Driscoll, D. A., Salvin, J., Sellinger, B., Budarf, M. L., McDonald-McGinn, D. M., Zackai, E. H., & Emanuel, B. S. (1993). Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. Journal of Medical Genetics. https://doi.org/10.1136/jmg.30.10.813
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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