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Molecular genetic approach to the characterization of the “Down syndrome region” of chromosome 21
Open accessAbstract
The cytogenetically defined "Down syndrome region" of chromosome 21 has been characterized by DNA analysis in patients with partial trisomy 21 with or without Down syndrome features. Single-copy DNA sequences mapped on chromosome 21 were used to determine copy number by polymorphism and/or dosage analysis in the patients. Given our results, which in some patients were in disagreement with their cytogenetic descriptions, trisomy for locus D21S13 through locus D21S58 is excluded from significant contribution to many Down syndrome features. The minimal chromosome region necessary in triplicate to result in the Down syndrome phenotypes in the patients characterized includes the area from locus D21S55 to locus COL6A1. We could not analyze the region between loci D21S58 and D21S55 and between COL6A1 and 21qter at the molecular level due to a lack of DNA probes and, consequently, the contribution of these areas to a Down syndrome phenotype when present in three copies is unknown. The molecular cloning and mapping of chromosome 21 and the expansion of the patient population studied will likely result in a more precise molecular definition of the Down syndrome region.
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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
Molecular Mapping of Twenty-Four Features of Down Syndrome on Chromosome 21
Delabar, J.-M., Theophile, D., Rahmani, Z., Chettouh, Z., Blouin, J.-L., Prieur, M., Noel, B., & Sinet, P.-M. (1993) · European Journal of Human Genetics · doi:10.1159/000472398 · Cited by 451
Altafaj, X. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.18.1915 · Cited by 396
Sago, H., Carlson, E. J., Smith, D. J., Kilbridge, J., Rubin, E. M., Mobley, W. C., Epstein, C. J., & Huang, T.-T. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.11.6256 · Cited by 382
Lyle, R., Béna, F., Gagos, S., Gehrig, C., Lopez, G., Schinzel, A., Lespinasse, J., Bottani, A., Dahoun, S., Taine, L., et al. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.214 · Cited by 331
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Metadata
- Authors
- McCormick, M. K., Schinzel, A., Petersen, M. B., Stetten, G., Driscoll, D. J., Cantu, E. S., Tranebjaerg, L., Mikkelsen, M., Watkins, P. C., & Antonarakis, S. E.
- Venue
- Genomics
- Publisher
- Elsevier BV
- Published
- 1989-08
- Volume
- 5
- Issue
- 2
- Pages
- 325-331
- ISSN
- 0888-7543 (ISSN-L)
- OpenAlex
- W2074122556
- Cited by
- 195
- References
- 0
- FWCI
- 19.51
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- McCormick, M. K., Schinzel, A., Petersen, M. B., Stetten, G., Driscoll, D. J., Cantu, E. S., Tranebjaerg, L., Mikkelsen, M., Watkins, P. C., & Antonarakis, S. E. (1989). Molecular genetic approach to the characterization of the “Down syndrome region” of chromosome 21. Genomics. https://doi.org/10.1016/0888-7543(89)90065-7
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