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. 1996 Oct;59(4):958–962.

7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover.

Z Urbán, C Helms, G Fekete, K Csiszár, D Bonnet, A Munnich, H Donis-Keller, C D Boyd
PMCID: PMC1914803  PMID: 8808614

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. BEUREN A. J., APITZ J., HARMJANZ D. Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation. 1962 Dec;26:1235–1240. doi: 10.1161/01.cir.26.6.1235. [DOI] [PubMed] [Google Scholar]
  2. Chumakov I. M., Rigault P., Le Gall I., Bellanné-Chantelot C., Billault A., Guillou S., Soularue P., Guasconi G., Poullier E., Gros I. A YAC contig map of the human genome. Nature. 1995 Sep 28;377(6547 Suppl):175–297. doi: 10.1038/377175a0. [DOI] [PubMed] [Google Scholar]
  3. Ewart A. K., Morris C. A., Atkinson D., Jin W., Sternes K., Spallone P., Stock A. D., Leppert M., Keating M. T. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet. 1993 Sep;5(1):11–16. doi: 10.1038/ng0993-11. [DOI] [PubMed] [Google Scholar]
  4. Foster K., Ferrell R., King-Underwood L., Povey S., Attwood J., Rennick R., Humphries S. E., Henney A. M. Description of a dinucleotide repeat polymorphism in the human elastin gene and its use to confirm assignment of the gene to chromosome 7. Ann Hum Genet. 1993 May;57(Pt 2):87–96. doi: 10.1111/j.1469-1809.1993.tb00890.x. [DOI] [PubMed] [Google Scholar]
  5. Gyapay G., Morissette J., Vignal A., Dib C., Fizames C., Millasseau P., Marc S., Bernardi G., Lathrop M., Weissenbach J. The 1993-94 Généthon human genetic linkage map. Nat Genet. 1994 Jun;7(2 Spec No):246–339. doi: 10.1038/ng0694supp-246. [DOI] [PubMed] [Google Scholar]
  6. Iles D. E., Lehmann-Horn F., Scherer S. W., Tsui L. C., Olde Weghuis D., Suijkerbuijk R. F., Heytens L., Mikala G., Schwartz A., Ellis F. R. Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families. Hum Mol Genet. 1994 Jun;3(6):969–975. doi: 10.1093/hmg/3.6.969. [DOI] [PubMed] [Google Scholar]
  7. Lowery M. C., Morris C. A., Ewart A., Brothman L. J., Zhu X. L., Leonard C. O., Carey J. C., Keating M., Brothman A. R. Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients. Am J Hum Genet. 1995 Jul;57(1):49–53. [PMC free article] [PubMed] [Google Scholar]
  8. Lupski J. R., Roth J. R., Weinstock G. M. Chromosomal duplications in bacteria, fruit flies, and humans. Am J Hum Genet. 1996 Jan;58(1):21–27. [PMC free article] [PubMed] [Google Scholar]
  9. Nickerson E., Greenberg F., Keating M. T., McCaskill C., Shaffer L. G. Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome. Am J Hum Genet. 1995 May;56(5):1156–1161. [PMC free article] [PubMed] [Google Scholar]
  10. Peoples R., Perez-Jurado L., Wang Y. K., Kaplan P., Francke U. The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion. Am J Hum Genet. 1996 Jun;58(6):1370–1373. [PMC free article] [PubMed] [Google Scholar]
  11. Suter U., Patel P. I. Genetic basis of inherited peripheral neuropathies. Hum Mutat. 1994;3(2):95–102. doi: 10.1002/humu.1380030203. [DOI] [PubMed] [Google Scholar]
  12. Tromp G., Christiano A., Goldstein N., Indik Z., Boyd C., Rosenbloom J., Deak S., Prockop D., Kuivaniemi H. A to G polymorphism in ELN gene. Nucleic Acids Res. 1991 Aug 11;19(15):4314–4314. doi: 10.1093/nar/19.15.4314-a. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. WILLIAMS J. C., BARRATT-BOYES B. G., LOWE J. B. Supravalvular aortic stenosis. Circulation. 1961 Dec;24:1311–1318. doi: 10.1161/01.cir.24.6.1311. [DOI] [PubMed] [Google Scholar]
  14. Weissenbach J., Gyapay G., Dib C., Vignal A., Morissette J., Millasseau P., Vaysseix G., Lathrop M. A second-generation linkage map of the human genome. Nature. 1992 Oct 29;359(6398):794–801. doi: 10.1038/359794a0. [DOI] [PubMed] [Google Scholar]

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