The DOI matches its Crossref record; 40 of the 40 references it cites were found in a registry or an index.
The 11q terminal deletion disorder: A prospective study of 110 cases
Abstract
We performed a prospective study of 110 patients (75 not previously published) with the 11q terminal deletion disorder (previously called Jacobsen syndrome), diagnosed by karyotype. All the patients have multiple dysmorphic features. Nearly all the patients (94%) have Paris‐Trousseau syndrome characterized by thrombocytopenia and platelet dysfunction. In total, 56% of the patients have serious congenital heart defects. Cognitive function ranged from normal intelligence to moderate mental retardation. Nearly half of the patients have mild mental retardation with a characteristic neuropsychiatric profile demonstrating near normal receptive language ability, but mild to moderate impairment in expressive language. Ophthalmologic, gastrointestinal, and genitourinary problems were common, as were gross and fine motor delays. Infections of the upper respiratory system were common, but no life‐threatening infections were reported. We include a molecular analysis of the deletion breakpoints in 65 patients, from which genetic “critical regions” for 14 clinical phenotypes are defined, as well as for the neuropsychiatric profiles. Based on these findings, we provide a comprehensive set of recommendations for the clinical management of patients with the 11q terminal deletion disorder. © 2004 Wiley‐Liss, Inc.
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Genetic heterogeneity of Barter's syndrome revealed by mutations in the K+ channel, ROMK
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Clinical and molecular characterization of patients with distal 11q deletions.
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Self-citationAssociation of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2
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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
Marino, B. S., Lipkin, P. H., Newburger, J. W., Peacock, G., Gerdes, M., Gaynor, J. W., Mussatto, K. A., Uzark, K., Goldberg, C. S., Johnson, W. H., et al. (2012) · Circulation · doi:10.1161/cir.0b013e318265ee8a · Cited by 1,608
Pierpont, M. E., Brueckner, M., Chung, W. K., Garg, V., Lacro, R. V., McGuire, A. L., Mital, S., Priest, J. R., Pu, W. T., Roberts, A., et al. (2018) · Circulation · doi:10.1161/cir.0000000000000606 · Cited by 654
Metadata
- Authors
- Grossfeld, P. D., Mattina, T., Lai, Z., Favier, R., Jones, K. L., Cotter, F., Jones, C., & the 11q Consortium
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2004-07-15
- Volume
- 129A
- Issue
- 1
- Pages
- 51-61
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- OpenAlex
- W1978978873
- Cited by
- 347
- References
- 40
- FWCI
- 7.91
- Type
- journal article
- Language
- en
- Open access
- closed
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- Grossfeld, P. D., Mattina, T., Lai, Z., Favier, R., Jones, K. L., Cotter, F., Jones, C., & the 11q Consortium. (2004). The 11q terminal deletion disorder: A prospective study of 110 cases. American Journal of Medical Genetics Part A. https://doi.org/10.1002/ajmg.a.30090
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