메뉴 건너뛰기




Volumn 326, Issue 24, 1992, Pages 1599-1607

The Frequency of Uniparental Disomy in Prader-Willi Syndrome: Implications for Molecular Diagnosis

Author keywords

[No Author keywords available]

Indexed keywords

DNA FRAGMENT;

EID: 0026647855     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJM199206113262404     Document Type: Article
Times cited : (222)

References (60)
  • 1
    • 0021314588 scopus 로고
    • Prader-Willi syndrome
    • Cassidy SB. Prader-Willi syndrome. Curr Probl Pediatr 1984; 14: 1–55.
    • (1984) Curr Probl Pediatr , vol.14 , pp. 1-55
    • Cassidy, S.B.1
  • 2
    • 0025181455 scopus 로고
    • Prader-Willi syndrome: current understanding of cause and diagnosis
    • Butler MG. Prader-Willi syndrome: current understanding of cause and diagnosis. Am J Med Genet 1990; 35: 319–32.
    • (1990) Am J Med Genet , vol.35 , pp. 319-332
    • Butler, M.G.1
  • 3
    • 0023637460 scopus 로고
    • Neonatal diagnosis of Prader-Willi syndrome and its implications
    • Greenberg F, Elder FFB, Ledbetter DH. Neonatal diagnosis of Prader-Willi syndrome and its implications. Am J Med Genet 1987; 28: 845–56.
    • (1987) Am J Med Genet , vol.28 , pp. 845-856
    • Greenberg, F.1    Elder, F.F.B.2    Ledbetter, D.H.3
  • 4
    • 0025165774 scopus 로고
    • Physical features of Prader-Willi syndrome in neonates
    • Aughton DJ, Cassidy SB. Physical features of Prader-Willi syndrome in neonates. Am J Dis Child 1990; 144: 1251–4.
    • (1990) Am J Dis Child , vol.144 , pp. 1251-1254
    • Aughton, D.J.1    Cassidy, S.B.2
  • 5
    • 0017279017 scopus 로고
    • The Prader-Willi syndrome with a 15/15 translocation: case report and review of the literature
    • Hawkey CJ, Smithies A. The Prader-Willi syndrome with a 15/15 translocation: case report and review of the literature. J Med Genet 1976; 13: 152–7.
    • (1976) J Med Genet , vol.13 , pp. 152-157
    • Hawkey, C.J.1    Smithies, A.2
  • 7
    • 0023637247 scopus 로고
    • Conference report: Second Annual Prader-Willi Syndrome Scientific Conference
    • Ledbetter DH, Greenberg F, Holm VA, Cassidy SB. Conference report: Second Annual Prader-Willi Syndrome Scientific Conference. Am J Med Genet 1987; 28: 779–90.
    • (1987) Am J Med Genet , vol.28 , pp. 779-790
    • Ledbetter, D.H.1    Greenberg, F.2    Holm, V.A.3    Cassidy, S.B.4
  • 8
    • 84995191751 scopus 로고
    • Puppet' children: a report on three cases
    • Angelman H. Puppet' children: a report on three cases. Dev Med Child Neurol 1965; 7: 681–8.
    • (1965) Dev Med Child Neurol , vol.7 , pp. 681-688
    • Angelman, H.1
  • 9
    • 0023617404 scopus 로고
    • Clinical heterogeneity associated with deletions in the long arm of chromosome 15: report of 3 new cases and their possible genetic significance
    • Kaplan LC, Wharton R, Elias E, Mandell F, Donlon T, Latt SA. Clinical heterogeneity associated with deletions in the long arm of chromosome 15: report of 3 new cases and their possible genetic significance. Am J Med Genet 1987; 28: 45–53.
    • (1987) Am J Med Genet , vol.28 , pp. 45-53
    • Kaplan, L.C.1    Wharton, R.2    Elias, E.3    Mandell, F.4    Donlon, T.5    Latt, S.A.6
  • 10
    • 0024619007 scopus 로고
    • Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion
    • Knoll JHM, Nicholls RD, Magenis RE, Graham JM Jr, Lalande M, Latt SA. Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet 1989; 32: 285–90.
    • (1989) Am J Med Genet , vol.32 , pp. 285-290
    • Knoll, J.H.M.1    Nicholls, R.D.2    Magenis, R.E.3    Graham, J.M.4    Lalande, M.5    Latt, S.A.6
  • 11
    • 0025173833 scopus 로고
    • Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin, and clinical consequences
    • Magenis RE, Toth-Fejel S, Allen LJ, et al. Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin, and clinical consequences. Am J Med Genet 1990; 35: 333–49.
    • (1990) Am J Med Genet , vol.35 , pp. 333-349
    • Magenis, R.E.1    Toth-Fejel, S.2    Allen, L.J.3
  • 12
    • 0024394434 scopus 로고
    • Incidence of 15q deletions in the Angelman syndrome: a survey of twelve affected persons
    • Williams CA, Gray BA, Hendrickson JE, Stone JW, Cantú ES. Incidence of 15q deletions in the Angelman syndrome: a survey of twelve affected persons. Am J Med Genet 1989; 32: 339–45.
    • (1989) Am J Med Genet , vol.32 , pp. 339-345
    • Williams, C.A.1    Gray, B.A.2    Hendrickson, J.E.3    Stone, J.W.4    Cantú, E.S.5
  • 13
    • 0024210659 scopus 로고
    • Similar molecular deletions on chromosome 15q11.2 are encountered in both the Prader-Willi and Angelman syndromes
    • Donlon TA. Similar molecular deletions on chromosome 15q11.2 are encountered in both the Prader-Willi and Angelman syndromes. Hum Genet 1988; 80: 322–8.
    • (1988) Hum Genet , vol.80 , pp. 322-328
    • Donlon, T.A.1
  • 14
    • 0025292716 scopus 로고
    • Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers
    • Knoll JHM, Nicholls RD, Magenis RE, et al. Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers. Am J Hum Genet 1990; 47: 149–55.
    • (1990) Am J Hum Genet , vol.47 , pp. 149-155
    • Knoll, J.H.M.1    Nicholls, R.D.2    Magenis, R.E.3
  • 16
    • 0021094659 scopus 로고
    • Parental origin of chromosome 15 deletion in Prader-Willi syndrome
    • Butler MG, Palmer CG. Parental origin of chromosome 15 deletion in Prader-Willi syndrome. Lancet 1983; 1: 1285–6.
    • (1983) Lancet , vol.1 , pp. 1285-1286
    • Butler, M.G.1    Palmer, C.G.2
  • 17
    • 0022462350 scopus 로고
    • Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome
    • Butler MG, Meaney FJ, Palmer CG. Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome. Am J Med Genet 1986; 23: 793–809.
    • (1986) Am J Med Genet , vol.23 , pp. 793-809
    • Butler, M.G.1    Meaney, F.J.2    Palmer, C.G.3
  • 18
    • 0024397019 scopus 로고
    • Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome
    • Nicholls RD, Knoll JH, Glatt K, et al. Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome. Am J Med Genet 1989; 33: 66–77.
    • (1989) Am J Med Genet , vol.33 , pp. 66-77
    • Nicholls, R.D.1    Knoll, J.H.2    Glatt, K.3
  • 19
    • 0025052050 scopus 로고
    • Maternal origin of 15q11–13 deletions in Angelman syndrome suggests a role for genomic imprinting
    • Williams CA, Zori RT, Stone JW, Gray BA, Cantú ES, Ostrer H. Maternal origin of 15q11–13 deletions in Angelman syndrome suggests a role for genomic imprinting. Am J Med Genet 1990; 35: 350–3.
    • (1990) Am J Med Genet , vol.35 , pp. 350-353
    • Williams, C.A.1    Zori, R.T.2    Stone, J.W.3    Gray, B.A.4    Cantú, E.S.5    Ostrer, H.6
  • 20
    • 0024440608 scopus 로고
    • Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome
    • Nicholls RD, Knoll JHM, Butler MG, Karam S, Lalande M. Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature 1989; 342: 281–5.
    • (1989) Nature , vol.342 , pp. 281-285
    • Nicholls, R.D.1    Knoll, J.H.M.2    Butler, M.G.3    Karam, S.4    Lalande, M.5
  • 21
    • 0026080417 scopus 로고
    • Uniparental paternal disomy in Angelman's syndrome
    • Malcolm S, Clayton-Smith J, Nichols M, et al. Uniparental paternal disomy in Angelman's syndrome. Lancet 1991; 337: 694–7.
    • (1991) Lancet , vol.337 , pp. 694-697
    • Malcolm, S.1    Clayton-Smith, J.2    Nichols, M.3
  • 22
    • 85033631846 scopus 로고    scopus 로고
    • Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome
    • (in press).
    • Nicholls RD, Pai GS, Gottlieb W, Cantú ES. Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome. Ann Neurol (in press).
    • Ann Neurol
    • Nicholls, R.D.1    Pai, G.S.2    Gottlieb, W.3    Cantú, E.S.4
  • 23
    • 0024152982 scopus 로고
    • Differential imprinting and expression of maternal and paternal genomes
    • Solter D. Differential imprinting and expression of maternal and paternal genomes. Annu Rev Genet 1988; 22: 127–46.
    • (1988) Annu Rev Genet , vol.22 , pp. 127-146
    • Solter, D.1
  • 24
    • 0025360106 scopus 로고
    • Genomic imprinting: review and relevance to human diseases
    • Hall JG. Genomic imprinting: review and relevance to human diseases. Am J Hum Genet 1990; 46: 857–73.
    • (1990) Am J Hum Genet , vol.46 , pp. 857-873
    • Hall, J.G.1
  • 25
    • 0025162956 scopus 로고
    • Parental imprinting of genes
    • Sapienza C. Parental imprinting of genes. Sci Am 1990; 263(4):52–60.
    • (1990) Sci Am , vol.263 , Issue.4 , pp. 52-60
    • Sapienza, C.1
  • 26
    • 0026566594 scopus 로고
    • Prader—Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15
    • Smeets DFCM, Hamel BCJ, Nelen MR, et al. Prader—Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15. N Engl J Med 1992; 326: 807–11.
    • (1992) N Engl J Med , vol.326 , pp. 807-811
    • Smeets, D.F.C.M.1    Hamel, B.C.J.2    Nelen, M.R.3
  • 27
    • 0026500579 scopus 로고
    • Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor β3-subunit gene
    • Saitoh S, Kubota T, Ohta T, et al. Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor β3-subunit gene. Lancet 1992; 339: 366–7.
    • (1992) Lancet , vol.339 , pp. 366-367
    • Saitoh, S.1    Kubota, T.2    Ohta, T.3
  • 28
    • 0026560679 scopus 로고
    • Genomic imprinting and its clinical implications
    • Hall JG. Genomic imprinting and its clinical implications. N Engl J Med 1992; 326: 827–9.
    • (1992) N Engl J Med , vol.326 , pp. 827-829
    • Hall, J.G.1
  • 29
    • 0002383429 scopus 로고
    • The diagnosis of Prader-Willi syndrome
    • In: Holm VA, Sulzbacher S, Pipes PL, eds. The Prader-Willi syndrome. Baltimore: University Park Press
    • Holm VA. The diagnosis of Prader-Willi syndrome. In: Holm VA, Sulzbacher S, Pipes PL, eds. The Prader-Willi syndrome. Baltimore: University Park Press, 1981:27–44.
    • (1981) , pp. 27-44
    • Holm, V.A.1
  • 30
    • 0024371764 scopus 로고
    • Hypopigmentation: a common feature of Prader-Labhart-Willi syndrome
    • Butler MG. Hypopigmentation: a common feature of Prader-Labhart-Willi syndrome. Am J Hum Genet 1989; 45: 140–6.
    • (1989) Am J Hum Genet , vol.45 , pp. 140-146
    • Butler, M.G.1
  • 31
    • 0019811677 scopus 로고
    • High-resolution bands in human fibroblast chromosomes induced by actinomycin D
    • Yu RL, Aronson MM, Nichols WW. High-resolution bands in human fibroblast chromosomes induced by actinomycin D. Cytogenet Cell Genet 1981; 31: 111–4.
    • (1981) Cytogenet Cell Genet , vol.31 , pp. 111-114
    • Yu, R.L.1    Aronson, M.M.2    Nichols, W.W.3
  • 32
    • 0015246254 scopus 로고
    • A rapid banding technique for human chromosomes
    • Seabright M. A rapid banding technique for human chromosomes. Lancet 1971; 2: 971–2.
    • (1971) Lancet , vol.2 , pp. 971-972
    • Seabright, M.1
  • 33
    • 0021259641 scopus 로고
    • A strategy to reveal high-frequency RFLPs along the human X chromosome
    • Aldridge J, Kunkel L, Bruns G, et al. A strategy to reveal high-frequency RFLPs along the human X chromosome. Am J Hum Genet 1984; 36: 546–64.
    • (1984) Am J Hum Genet , vol.36 , pp. 546-564
    • Aldridge, J.1    Kunkel, L.2    Bruns, G.3
  • 34
    • 0022475535 scopus 로고
    • Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome
    • Donlon TA, Lalande M, Wyman A, Bruns G, Latt SA. Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome. Proc Natl Acad Sci U S A 1986; 83: 4408–12.
    • (1986) Proc Natl Acad Sci U S A , vol.83 , pp. 4408-4412
    • Donlon, T.A.1    Lalande, M.2    Wyman, A.3    Bruns, G.4    Latt, S.A.5
  • 35
  • 37
    • 0021366157 scopus 로고
    • Restriction sites containing CpG show a higher frequency of polymorphism in human DNA
    • Barker D, Schafer M, White R. Restriction sites containing CpG show a higher frequency of polymorphism in human DNA. Cell 1984; 36: 131–8.
    • (1984) Cell , vol.36 , pp. 131-138
    • Barker, D.1    Schafer, M.2    White, R.3
  • 39
    • 0025260096 scopus 로고
    • Systematic cloning of human minisatellites from ordered array charomid libraries
    • Armour JAL, Povey S, Jeremiah S, Jeffreys AJ. Systematic cloning of human minisatellites from ordered array charomid libraries. Genomics 1990; 8: 501–12.
    • (1990) Genomics , vol.8 , pp. 501-512
    • Armour, J.A.L.1    Povey, S.2    Jeremiah, S.3    Jeffreys, A.J.4
  • 40
    • 0024380703 scopus 로고
    • Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader-Willi syndrome
    • Tantravahi U, Nicholls RD, Stroh H, et al. Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader-Willi syndrome. Am J Med Genet 1989; 33: 78–87.
    • (1989) Am J Med Genet , vol.33 , pp. 78-87
    • Tantravahi, U.1    Nicholls, R.D.2    Stroh, H.3
  • 41
    • 0022442180 scopus 로고
    • Analysis of the human α-globin gene cluster reveals a highly informative genetic locus
    • Higgs DR, Wainscoat JS, Flint J, et al. Analysis of the human α-globin gene cluster reveals a highly informative genetic locus. Proc Natl Acad Sci U S A 1986; 83: 5165–9.
    • (1986) Proc Natl Acad Sci U S A , vol.83 , pp. 5165-5169
    • Higgs, D.R.1    Wainscoat, J.S.2    Flint, J.3
  • 42
    • 85023670077 scopus 로고
    • Wagner Mascari MJ
    • Molecular diagnosis of Prader-Willi syndrome. (Ph.D. dissertation. University Park: Pennsylvania State University,.)
    • Wagner Mascari MJ. Molecular diagnosis of Prader-Willi syndrome. (Ph.D. dissertation. University Park: Pennsylvania State University, 1991.)
    • (1991)
  • 43
    • 0018939994 scopus 로고
    • A new genetic concept: uniparental disomy and its potential effect, isodisomy
    • Engel E. A new genetic concept: uniparental disomy and its potential effect, isodisomy. Am J Med Genet 1980; 6: 137–43.
    • (1980) Am J Med Genet , vol.6 , pp. 137-143
    • Engel, E.1
  • 44
    • 0025093887 scopus 로고
    • Styl polymorphism at the D15S11 locus
    • Hamabe J, Niikawa N. Styl polymorphism at the D15S11 locus. Nucleic Acids Res 1990; 18: 5579.
    • (1990) Nucleic Acids Res , vol.18 , pp. 5579
    • Hamabe, J.1    Niikawa, N.2
  • 45
    • 0023897290 scopus 로고
    • Uniparental disomy as a mechanism for human genetic disease
    • Spence JE, Perciaccante RG, Greig GM, et al. Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet 1988; 42: 217–26.
    • (1988) Am J Hum Genet , vol.42 , pp. 217-226
    • Spence, J.E.1    Perciaccante, R.G.2    Greig, G.M.3
  • 46
    • 0023955134 scopus 로고
    • Uniparental disomy: a rare consequence of the high rate of aneuploidy in human gametes
    • Warburton D. Uniparental disomy: a rare consequence of the high rate of aneuploidy in human gametes. Am J Hum Genet 1988; 42: 215–6.
    • (1988) Am J Hum Genet , vol.42 , pp. 215-216
    • Warburton, D.1
  • 47
    • 0026353331 scopus 로고
    • Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients
    • Robinson WP, Bottani A, Yagang X, et al. Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients. Am J Hum Genet 1991; 49: 1219–34.
    • (1991) Am J Hum Genet , vol.49 , pp. 1219-1234
    • Robinson, W.P.1    Bottani, A.2    Yagang, X.3
  • 48
    • 0024582686 scopus 로고
    • Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction
    • Weber JL, May PE. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 1989; 44: 388–96.
    • (1989) Am J Hum Genet , vol.44 , pp. 388-396
    • Weber, J.L.1    May, P.E.2
  • 49
    • 0025907673 scopus 로고
    • Down Syndrome Collaborative Group. Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA polymorphisms
    • Antonarakis SE, Down Syndrome Collaborative Group. Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA polymorphisms. N Engl J Med 1991; 324: 872–6.
    • (1991) N Engl J Med , vol.324 , pp. 872-876
    • Antonarakis, S.E.1
  • 51
    • 0021906685 scopus 로고
    • Maternal age-specific rates of numerical chromosome abnormalities with special reference to trisomy
    • Hassold T, Chiu D. Maternal age-specific rates of numerical chromosome abnormalities with special reference to trisomy. Hum Genet 1985; 70: 11–7.
    • (1985) Hum Genet , vol.70 , pp. 11-17
    • Hassold, T.1    Chiu, D.2
  • 52
    • 0024432089 scopus 로고
    • Parental origin of the extra chromosome in trisomy 18
    • Kupke KG, Muller U. Parental origin of the extra chromosome in trisomy 18. Am J Hum Genet 1989; 45: 599–605.
    • (1989) Am J Hum Genet , vol.45 , pp. 599-605
    • Kupke, K.G.1    Muller, U.2
  • 53
    • 0025356218 scopus 로고
    • The parental origin of the extra X chromosome in 47, XXX females
    • May KM, Jacobs PA, Lee M, et al. The parental origin of the extra X chromosome in 47, XXX females. Am J Hum Genet 1990; 46: 754–61.
    • (1990) Am J Hum Genet , vol.46 , pp. 754-761
    • May, K.M.1    Jacobs, P.A.2    Lee, M.3
  • 54
    • 85023243862 scopus 로고    scopus 로고
    • Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy
    • (in press).
    • Cassidy SB, Lai L-W, Erickson RP, et al. Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy. Am J Hum Genet (in press).
    • Am J Hum Genet
    • Cassidy, S.B.1    Lai, L.-W.2    Erickson, R.P.3
  • 55
    • 85033634591 scopus 로고    scopus 로고
    • Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review
    • (in press).
    • Nicholls RD. Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review. Am J Med Genet (in press).
    • Am J Med Genet
    • Nicholls, R.D.1
  • 56
    • 85023675254 scopus 로고    scopus 로고
    • Genomic imprinting in mammalian development: Prader-Willi and Angelman syndromes as disease models
    • In: Surani MA, ed. Seminars in developmental biology (in press).
    • Nicholls RD, Rinchik EM, Driscoll DJ. Genomic imprinting in mammalian development: Prader-Willi and Angelman syndromes as disease models. In: Surani MA, ed. Seminars in developmental biology (in press).
    • Nicholls, R.D.1    Rinchik, E.M.2    Driscoll, D.J.3
  • 57
    • 85023662594 scopus 로고    scopus 로고
    • A DNA methylation imprint, determined by the sex-of-parent, distinguishes the Angelman and Prader-Willi syndromes
    • (in press).
    • Driscoll DJ, Waters MF, Williams CA, et al. A DNA methylation imprint, determined by the sex-of-parent, distinguishes the Angelman and Prader-Willi syndromes. Genomics (in press).
    • Genomics
    • Driscoll, D.J.1    Waters, M.F.2    Williams, C.A.3
  • 59
    • 85023651366 scopus 로고
    • Mapping of loci deleted in Angelman and Prader-Willi syndromes identifies conservation of synteny in mice and possible animal models
    • abstract.
    • Nicholls RD, Neumann PE, Horsthemke B, Rinchik G. Mapping of loci deleted in Angelman and Prader-Willi syndromes identifies conservation of synteny in mice and possible animal models. Am J Hum Genet 1991; 49: Suppl: 334. abstract.
    • (1991) Am J Hum Genet , vol.49 , pp. 334
    • Nicholls, R.D.1    Neumann, P.E.2    Horsthemke, B.3    Rinchik, G.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.