Skip to main content
PMC home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
letter
. 1997 Jul;61(1):228–231. doi: 10.1086/513907

Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome.

R Carrozzo, E Rossi, S L Christian, K Kittikamron, C Livieri, A Corrias, L Pucci, A Fois, P Simi, L Bosio, L Beccaria, O Zuffardi, D H Ledbetter
PMCID: PMC1715856  PMID: 9246004

Full text

PDF
228

Images in this article

230Figure 1
on p.230

Selected References

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

  1. Chance P. F., Abbas N., Lensch M. W., Pentao L., Roa B. B., Patel P. I., Lupski J. R. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet. 1994 Feb;3(2):223–228. doi: 10.1093/hmg/3.2.223. [DOI] [PubMed] [Google Scholar]
  2. Christian S. L., Robinson W. P., Huang B., Mutirangura A., Line M. R., Nakao M., Surti U., Chakravarti A., Ledbetter D. H. Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. Am J Hum Genet. 1995 Jul;57(1):40–48. [PMC free article] [PubMed] [Google Scholar]
  3. Clayton-Smith J., Webb T., Cheng X. J., Pembrey M. E., Malcolm S. Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome. J Med Genet. 1993 Jun;30(6):529–531. doi: 10.1136/jmg.30.6.529. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Dutly F., Schinzel A. Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome. Hum Mol Genet. 1996 Dec;5(12):1893–1898. doi: 10.1093/hmg/5.12.1893. [DOI] [PubMed] [Google Scholar]
  5. Huang B., Crolla J. A., Christian S. L., Wolf-Ledbetter M. E., Macha M. E., Papenhausen P. N., Ledbetter D. H. Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes. Hum Genet. 1997 Jan;99(1):11–17. doi: 10.1007/s004390050301. [DOI] [PubMed] [Google Scholar]
  6. Hudson T. J., Stein L. D., Gerety S. S., Ma J., Castle A. B., Silva J., Slonim D. K., Baptista R., Kruglyak L., Xu S. H. An STS-based map of the human genome. Science. 1995 Dec 22;270(5244):1945–1954. doi: 10.1126/science.270.5244.1945. [DOI] [PubMed] [Google Scholar]
  7. Knoll J. H., Wagstaff J., Lalande M. Cytogenetic and molecular studies in the Prader-Willi and Angelman syndromes: an overview. Am J Med Genet. 1993 Apr 1;46(1):2–6. doi: 10.1002/ajmg.1320460103. [DOI] [PubMed] [Google Scholar]
  8. Kuwano A., Mutirangura A., Dittrich B., Buiting K., Horsthemke B., Saitoh S., Niikawa N., Ledbetter S. A., Greenberg F., Chinault A. C. Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis. Hum Mol Genet. 1992 Sep;1(6):417–425. doi: 10.1093/hmg/1.6.417. [DOI] [PubMed] [Google Scholar]
  9. Lakich D., Kazazian H. H., Jr, Antonarakis S. E., Gitschier J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet. 1993 Nov;5(3):236–241. doi: 10.1038/ng1193-236. [DOI] [PubMed] [Google Scholar]
  10. Lehrman M. A., Goldstein J. L., Russell D. W., Brown M. S. Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia. Cell. 1987 Mar 13;48(5):827–835. doi: 10.1016/0092-8674(87)90079-1. [DOI] [PubMed] [Google Scholar]
  11. Marcus S., Hellgren D., Lambert B., Fällström S. P., Wahlström J. Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch Nyhan syndrome. Hum Genet. 1993 Jan;90(5):477–482. doi: 10.1007/BF00217444. [DOI] [PubMed] [Google Scholar]
  12. Nathans J., Piantanida T. P., Eddy R. L., Shows T. B., Hogness D. S. Molecular genetics of inherited variation in human color vision. Science. 1986 Apr 11;232(4747):203–210. doi: 10.1126/science.3485310. [DOI] [PubMed] [Google Scholar]
  13. Pentao L., Wise C. A., Chinault A. C., Patel P. I., Lupski J. R. Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat Genet. 1992 Dec;2(4):292–300. doi: 10.1038/ng1292-292. [DOI] [PubMed] [Google Scholar]
  14. Reiter L. T., Murakami T., Koeuth T., Pentao L., Muzny D. M., Gibbs R. A., Lupski J. R. A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet. 1996 Mar;12(3):288–297. doi: 10.1038/ng0396-288. [DOI] [PubMed] [Google Scholar]
  15. Robinson W. P., Bottani A., Xie Y. G., Balakrishman J., Binkert F., Mächler M., Prader A., Schinzel A. Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients. Am J Hum Genet. 1991 Dec;49(6):1219–1234. [PMC free article] [PubMed] [Google Scholar]
  16. Robinson W. P., Lalande M. Sex-specific meiotic recombination in the Prader--Willi/Angelman syndrome imprinted region. Hum Mol Genet. 1995 May;4(5):801–806. doi: 10.1093/hmg/4.5.801. [DOI] [PubMed] [Google Scholar]
  17. Rossiter J. P., Young M., Kimberland M. L., Hutter P., Ketterling R. P., Gitschier J., Horst J., Morris M. A., Schaid D. J., de Moerloose P. Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells. Hum Mol Genet. 1994 Jul;3(7):1035–1039. doi: 10.1093/hmg/3.7.1035. [DOI] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES