The DOI matches its Crossref record; 15 of the 15 references it cites were found in a registry or an index.
Down syndrome phenotypes: the consequences of chromosomal imbalance.
Open accessAbstract
Down syndrome (DS) is a major cause of mental retardation and congenital heart disease. Besides a characteristic set of facial and physical features, DS is associated with congenital anomalies of the gastrointestinal tract, an increased risk of leukemia, immune system defects, and an Alzheimer-like dementia. Moreover, DS is a model for the study of human aneuploidy. Although usually caused by the presence of an extra chromosome 21, subsets of the phenotypic features of DS may be caused by the duplication of small regions of the chromosome. The physical map of chromosome 21 allows the molecular definition of the regions duplicated in these rare cases of partial trisomy. As a first step in identifying the genes responsible for individual DS features and their pathophysiology, a panel of cell lines derived from 16 such individuals has been established and the molecular break points have been determined using fluorescence in situ hybridization and Southern blot dosage analysis of 32 markers unique to human chromosome 21. Combining this information with detailed clinical evaluations of these patients, we have now constructed a "phenotypic map" that includes 25 features and assigns regions of 2-20 megabases as likely to contain the genes responsible. This study provides evidence for a significant contribution of genes outside the D21S55 region to the DS phenotypes, including the facies, microcephaly, short stature, hypotonia, abnormal dermatoglyphics, and mental retardation. This strongly suggests DS is a contiguous gene syndrome and augurs against a single DS chromosomal region responsible for most of the DS phenotypic features.
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Cites
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Molecular Mapping of Twenty-Four Features of Down Syndrome on Chromosome 21
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THE SOMATIC CHROMOSOMES IN MONGOLISM
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Self-citation(1991) · PubMed · Cited by 209
Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis.
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Down syndrome : advances in biomedicine and the behavioral sciences
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Cited by
A mouse model for Down syndrome exhibits learning and behaviour deficits
Reeves, R. H., Irving, N. G., Moran, T. H., Wohn, A., Kitt, C., Sisodia, S. S., Schmidt, C., Bronson, R. T., & Davisson, M. T. (1995) · Nature Genetics · doi:10.1038/ng1095-177 · Cited by 913
Chromosome 21 and Down syndrome: from genomics to pathophysiology
Antonarakis, S. E., Lyle, R., Dermitzakis, E. T., Reymond, A., & Deutsch, S. (2004) · Nature Reviews Genetics · doi:10.1038/nrg1448 · Cited by 703
NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21
Arron, J. R., Winslow, M. M., Polleri, A., Chang, C.-P., Wu, H., Gao, X., Neilson, J. R., Chen, L., Heit, J. J., Kim, S. K., et al. (2006) · Nature · doi:10.1038/nature04678 · Cited by 698
Salehi, A., Delcroix, J.-D., Belichenko, P. V., Zhan, K., Wu, C., Valletta, J. S., Takimoto-Kimura, R., Kleschevnikov, A. M., Sambamurti, K., Chung, P. P., et al. (2006) · Neuron · doi:10.1016/j.neuron.2006.05.022 · Cited by 543
Kleschevnikov, A. M., Belichenko, P. V., Villar, A. J., Epstein, C. J., Malenka, R. C., & Mobley, W. C. (2004) · The Journal of Neuroscience · doi:10.1523/jneurosci.1766-04.2004 · Cited by 459
Metadata
- Authors
- Korenberg, J. R., Chen, X. N., Schipper, R., Sun, Z., Gonsky, R., Gerwehr, S., Carpenter, N., Daumer, C., Dignan, P., & Disteche, C.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 1994-05-24
- Volume
- 91
- Issue
- 11
- Pages
- 4997-5001
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2027036934
- Cited by
- 784
- References
- 15
- FWCI
- 38.46
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: Down syndrome phenotypes: the consequences of chromosomal imbalance. https://app.cochat.ai/papers/10.1073/pnas.91.11.4997
- The paper
- Korenberg, J. R., Chen, X. N., Schipper, R., Sun, Z., Gonsky, R., Gerwehr, S., Carpenter, N., Daumer, C., Dignan, P., & Disteche, C. (1994). Down syndrome phenotypes: the consequences of chromosomal imbalance. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.91.11.4997
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
