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Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
Open accessAbstract
We present clinical data on 558 patients with deletions within the DiGeorge syndrome critical region of chromosome 22q11. Twenty-eight percent of the cases where parents had been tested had inherited deletions, with a marked excess of maternally inherited deletions (maternal 61, paternal 18). Eight percent of the patients had died, over half of these within a month of birth and the majority within 6 months. All but one of the deaths were the result of congenital heart disease. Clinically significant immunological problems were very uncommon. Nine percent of patients had cleft palate and 32% had velopharyngeal insufficiency, 60% of patients were hypocalcaemic, 75% of patients had cardiac problems, and 36% of patients who had abdominal ultrasound had a renal abnormality. Sixty-two percent of surviving patients were developmentally normal or had only mild learning problems. The majority of patients were constitutionally small, with 36% of patients below the 3rd centile for either height or weight parameters.
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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
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Murphy, K. C., Jones, L. A., & Owen, M. J. (1999) · Archives of General Psychiatry · doi:10.1001/archpsyc.56.10.940 · Cited by 1,024
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Scambler, P. J. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.16.2421 · Cited by 490
Self-citationStudy, S. S., Singh, T., Study, I., Study, D., UK10 K Consortium, Kurki, M. I., Curtis, D., Purcell, S. M., Crooks, L., McRae, J., et al. (2016) · Nature Neuroscience · doi:10.1038/nn.4267 · Cited by 452
Metadata
- Authors
- Ryan, A. K., Goodship, J. A., Wilson, D. I., Philip, N., Levy, A., Seidel, H., Schuffenhauer, S., Oechsler, H., Belohradsky, B., Prieur, M., Aurias, A., Raymond, F. L., Clayton-Smith, J., Hatchwell, E., McKeown, C., Beemer, F. A., Dallapiccola, B., Novelli, G., Hurst, J. A., Ignatius, J., Green, A. J., Winter, R. M., Brueton, L., Brøndum-Nielsen, K., & Scambler, P. J.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 1997-10
- Volume
- 34
- Issue
- 10
- Pages
- 798-804
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2143481531
- Cited by
- 1,199
- References
- 0
- FWCI
- 21.54
- Type
- journal article
- Language
- en
- Open access
- bronze
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- The paper
- Ryan, A. K., Goodship, J. A., Wilson, D. I., Philip, N., Levy, A., Seidel, H., Schuffenhauer, S., Oechsler, H., Belohradsky, B., Prieur, M., Aurias, A., Raymond, F. L., Clayton-Smith, J., Hatchwell, E., McKeown, C., Beemer, F. A., Dallapiccola, B., Novelli, G., Hurst, J. A., . . . Scambler, P. J. (1997). Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. Journal of Medical Genetics. https://doi.org/10.1136/jmg.34.10.798
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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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