Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy

作者: R. P. Erickson , E. Thomas , L. Magnuson , R. Gendron , Li-Wen Lai

DOI:

关键词:

摘要: … 15 with subsequent loss of the paternal 15 resulting in PWS due to maternal disomy. This process is presumed to be due to maternal nondisjunction, a presumption strengthened by the …

参考文章(28)
David H. Ledbetter, Vincent M. Riccardi, Susan D. Airhart, Richard J. Strobel, Bruce S. Keenan, John D. Crawford, Deletions of Chromosome 15 as a Cause of the Prader–Willi Syndrome The New England Journal of Medicine. ,vol. 304, pp. 325- 329 ,(1981) , 10.1056/NEJM198102053040604
Eric Engel, A new genetic concept: uniparental disomy and its potential effect, isodisomy American Journal of Medical Genetics. ,vol. 6, pp. 137- 143 ,(1980) , 10.1002/AJMG.1320060207
S. Malcolm, J. Clayton-Smith, M. Nichols, M.E. Pembrey, J.A.L. Armour, A.J. Jeffreys, S. Robb, T. Webb, Uniparental paternal disomy in Angelman's syndrome The Lancet. ,vol. 337, pp. 694- 697 ,(1991) , 10.1016/0140-6736(91)90278-W
M. Hultén, S. Armstrong, P. Challinor, C. Gould, G. Hardy, P. Leedham, T. Lee, C. Mckeown, Genomic imprinting in an Angelman and Prader-Willi translocation family The Lancet. ,vol. 338, pp. 638- 639 ,(1991) , 10.1016/0140-6736(91)90652-6
Y. Nakamura, S. Gillilan, P. O'Connell, M. Leppert, G.M. Lathrop, J.-M. Lalouel, R. White, Isolation and mapping of a polymorphic DNA sequence pYNH24 on chromosome 2 (D2S44) Nucleic Acids Research. ,vol. 15, pp. 10073- 10073 ,(1987) , 10.1093/NAR/15.23.10073
J. H. M. Knoll, R. D. Nicholls, R. E. Magenis, J. M. Graham, M. Lalande, S. A. Latt, John M. Opitz, James F. Reynolds, Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. American Journal of Medical Genetics. ,vol. 32, pp. 285- 290 ,(1989) , 10.1002/AJMG.1320320235
James L. Weber, Anne E. Kwitek, Paula E. May, Dinucleotide repeat polymorphism at the D1S104 locus Nucleic Acids Research. ,vol. 18, pp. 2835- 2835 ,(1990) , 10.1093/NAR/18.9.2835-A
Donna C. Rich, Collette M. Witkowski, Kim M. Summers, Peter van Tuinen, David H. Ledbetter, Highly polymorphic locus D15S24 (CMW-1) maps to 15pter-q13. (HGM9 provisional no. D15S24) Nucleic Acids Research. ,vol. 16, pp. 8740- 8740 ,(1988) , 10.1093/NAR/16.17.8740
Robert D. Nicholls, Joan H. Knoll, Karen Glatt, Joseph H. Hersh, Thomas D. Brewster, John M. Graham, Doris Wurster-Hill, Robert Wharton, Samuel A. Latt, Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome. American Journal of Medical Genetics. ,vol. 33, pp. 66- 77 ,(1989) , 10.1002/AJMG.1320330109
Sterling K. Clarren, Prader-Willi Syndrome American Journal of Diseases of Children. ,vol. 131, pp. 798- 800 ,(1977) , 10.1001/ARCHPEDI.1977.02120200080018