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Volumn 7, Issue 2, 2003, Pages 113-117

Uniparental Disomy and Robertsonian Translocations: Risk Estimation and Prenatal Testing

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[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA;

EID: 0242608378     PISSN: 10848592     EISSN: None     Source Type: Journal    
DOI: 10.2165/00066982-200307020-00004     Document Type: Article
Times cited : (7)

References (26)
  • 1
    • 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
  • 2
    • 0033613977 scopus 로고    scopus 로고
    • Abnormal phenotypes in uniparental disomy (UPD): Fundamental aspects and a critical review with bibliography of UPD other than 15
    • Kotzot D. Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15. Am J Med Genet 1999; 82: 265-74
    • (1999) Am J Med Genet , vol.82 , pp. 265-274
    • Kotzot, D.1
  • 3
    • 0023897290 scopus 로고
    • Uniparental disomy as a mechanism for human genetic disease
    • Spence JF, 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.F.1    Perciaccante, R.G.2    Greig, G.M.3
  • 4
    • 0032511751 scopus 로고    scopus 로고
    • Systematic search for uniparental disomy in early fetal losses: The results and a review of the literature
    • Shaffer LG, McCaskill C, Adkins K, et al. Systematic search for uniparental disomy in early fetal losses: the results and a review of the literature. Am J Med Genet 1998; 79: 366-72
    • (1998) Am J Med Genet , vol.79 , pp. 366-372
    • Shaffer, L.G.1    McCaskill, C.2    Adkins, K.3
  • 5
    • 0023629482 scopus 로고
    • Variation in the frequency and type of sperm chromosomal abnormalities among normal men
    • Martin RN, Rademaker AW, Hildebrand K, et al. Variation in the frequency and type of sperm chromosomal abnormalities among normal men. Hum Genet 1987; 77: 108-14
    • (1987) Hum Genet , vol.77 , pp. 108-114
    • Martin, R.N.1    Rademaker, A.W.2    Hildebrand, K.3
  • 6
    • 0025773075 scopus 로고
    • Uniparental disomy, isodisomy, and imprinting: Probable effects in man and strategies for their detection
    • Engel E, de Lozier-Blanchet CD. Uniparental disomy, isodisomy, and imprinting: probable effects in man and strategies for their detection. Am J Med Genet 1991; 40: 432-9
    • (1991) Am J Med Genet , vol.40 , pp. 432-439
    • Engel, E.1    De Lozier-Blanchet, C.D.2
  • 7
    • 0033404192 scopus 로고    scopus 로고
    • Search for uniparental disomy 14 in balanced Robertsonian translocation carriers
    • Eggermann T, Wolf M, Spaich C, et al. Search for uniparental disomy 14 in balanced Robertsonian translocation carriers. Clin Genet 1999; 56: 464-6
    • (1999) Clin Genet , vol.56 , pp. 464-466
    • Eggermann, T.1    Wolf, M.2    Spaich, C.3
  • 8
    • 0032773936 scopus 로고    scopus 로고
    • Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q32-14q24.2)
    • Martin RA, Sabol DW, Rogan PK. Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q32-14q24.2). J Med Genet 1999; 36: 633-6
    • (1999) J Med Genet , vol.36 , pp. 633-636
    • Martin, R.A.1    Sabol, D.W.2    Rogan, P.K.3
  • 9
    • 0035105118 scopus 로고    scopus 로고
    • Identification of interstitial maternal uniparental disomy (UPD)(14) and complete maternal UPD(20) in a cohort of growth retarded patients
    • Eggermann T, Mergenthaler S, Eggermann K, et al. Identification of interstitial maternal uniparental disomy (UPD)(14) and complete maternal UPD(20) in a cohort of growth retarded patients. J Med Genet 2001; 38: 86-9
    • (2001) J Med Genet , vol.38 , pp. 86-89
    • Eggermann, T.1    Mergenthaler, S.2    Eggermann, K.3
  • 10
    • 0029038062 scopus 로고
    • Uniparental disomy in congenital disorders: A prospective study
    • Lindor NM, Kames PS, Michels VV, et al. Uniparental disomy in congenital disorders: a prospective study. Am J Med Genet 1995; 58: 143-6
    • (1995) Am J Med Genet , vol.58 , pp. 143-146
    • Lindor, N.M.1    Kames, P.S.2    Michels, V.V.3
  • 11
    • 0034094479 scopus 로고    scopus 로고
    • Prenatal UPD testing survey in Robertsonian translocations
    • Gualandi F, Sensi A, Trabanelli C, et al. Prenatal UPD testing survey in Robertsonian translocations. Prenat Diagn 2000; 20: 465-8
    • (2000) Prenat Diagn , vol.20 , pp. 465-468
    • Gualandi, F.1    Sensi, A.2    Trabanelli, C.3
  • 12
    • 0033926871 scopus 로고    scopus 로고
    • Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes
    • Berend SA, Horwitz J, McCaskill C, et al. Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes. Am J Hum Genet 2000; 66: 1787-93
    • (2000) Am J Hum Genet , vol.66 , pp. 1787-1793
    • Berend, S.A.1    Horwitz, J.2    McCaskill, C.3
  • 13
    • 0034912678 scopus 로고    scopus 로고
    • Prenatal testing for uniparental disomy (UPD)
    • Jay MA, Roberts E, Davies T, et al. Prenatal testing for uniparental disomy (UPD). Prenat Diagn 2001; 21: 512-3
    • (2001) Prenat Diagn , vol.21 , pp. 512-513
    • Jay, M.A.1    Roberts, E.2    Davies, T.3
  • 14
    • 0036023277 scopus 로고    scopus 로고
    • Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: Risk estimate
    • Silverstein S, Lerer I, Sagi M, et al. Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: risk estimate. Prenat Diagn 2002; 22: 649-51
    • (2002) Prenat Diagn , vol.22 , pp. 649-651
    • Silverstein, S.1    Lerer, I.2    Sagi, M.3
  • 15
    • 0025941775 scopus 로고
    • De-novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints
    • Warburton D. De-novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet 1991; 49: 995-1013
    • (1991) Am J Hum Genet , vol.49 , pp. 995-1013
    • Warburton, D.1
  • 16
    • 15844378207 scopus 로고    scopus 로고
    • Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism
    • Christian SL, Smith ACM, Macha M, et al. Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism. Prenat Diagn 1996; 16: 323-32
    • (1996) Prenat Diagn , vol.16 , pp. 323-332
    • Christian, S.L.1    Smith, A.C.M.2    Macha, M.3
  • 17
    • 0029658702 scopus 로고    scopus 로고
    • Cytogenetic and age-dependent risk factors associated with uniparental disomy 15
    • Robinson WP, Langlois S, Schuffenhauer S, et al. Cytogenetic and age-dependent risk factors associated with uniparental disomy 15. Prenat Diagn 1996; 16: 837-44
    • (1996) Prenat Diagn , vol.16 , pp. 837-844
    • Robinson, W.P.1    Langlois, S.2    Schuffenhauer, S.3
  • 18
    • 0032932423 scopus 로고    scopus 로고
    • Trisomy 15 CPM: Probable origins, pregnancy outcome and risk for fetal UPD: European Collaborative Research on Mosaicism in CVS
    • EUCROMIC. Trisomy 15 CPM: probable origins, pregnancy outcome and risk for fetal UPD: European Collaborative Research on Mosaicism in CVS. Prenat Diagn 1999; 19: 29-35
    • (1999) Prenat Diagn , vol.19 , pp. 29-35
  • 20
    • 0031943492 scopus 로고    scopus 로고
    • Chromosome abnormalities in 447 couples undergoing intracytoplasmic sperm injection: Prevalences, types, sex distribution and reproductive relevance
    • Meschede D, Lemcke B, Exeler JR, et al. Chromosome abnormalities in 447 couples undergoing intracytoplasmic sperm injection: prevalences, types, sex distribution and reproductive relevance. Hum Reprod 1998; 13: 575-82
    • (1998) Hum Reprod , vol.13 , pp. 575-582
    • Meschede, D.1    Lemcke, B.2    Exeler, J.R.3
  • 21
    • 0032884558 scopus 로고    scopus 로고
    • Type and frequency of chromosome aberrations in 781 couples undergoing intracytoplasmic sperm injection
    • Peschka B, Leygraaf J, van der Veen K, et al. Type and frequency of chromosome aberrations in 781 couples undergoing intracytoplasmic sperm injection. Hum Reprod 1999; 14: 2257-63
    • (1999) Hum Reprod , vol.14 , pp. 2257-2263
    • Peschka, B.1    Leygraaf, J.2    Van Der Veen, K.3
  • 22
    • 0036304235 scopus 로고    scopus 로고
    • Intracytoplasmic sperm injection may increase the risk of imprinting defects
    • Cox GF, Bürger J, Lip V, et al. Intracytoplasmic sperm injection may increase the risk of imprinting defects. Am J Hum Genet 2002; 71: 162-4
    • (2002) Am J Hum Genet , vol.71 , pp. 162-164
    • Cox, G.F.1    Bürger, J.2    Lip, V.3
  • 23
    • 0037221929 scopus 로고    scopus 로고
    • Another case of imprinting defect in a girl with Angelman syndrome conceived by intracytoplasmic sperm injection
    • Orstavik KH, Eiklid K, van der Hagen CB, et al. Another case of imprinting defect in a girl with Angelman syndrome conceived by intracytoplasmic sperm injection. Am J Hum Genet 2003; 72: 218-9
    • (2003) Am J Hum Genet , vol.72 , pp. 218-219
    • Orstavik, K.H.1    Eiklid, K.2    Van Der Hagen, C.B.3
  • 24
    • 0033712113 scopus 로고    scopus 로고
    • Study of DNA methylation patterns at chromosome 15q11-q13 in children born after ICSI reveals no imprinting defects
    • Manning M, Lissens W, Bonduelle M, et al. Study of DNA methylation patterns at chromosome 15q11-q13 in children born after ICSI reveals no imprinting defects. Mol Hum Reprod 2000; 6: 1049-53
    • (2000) Mol Hum Reprod , vol.6 , pp. 1049-1053
    • Manning, M.1    Lissens, W.2    Bonduelle, M.3
  • 25
    • 0002711242 scopus 로고
    • Mosaicism confined to chorionic tissue in human gestations
    • Fraccaro M, Simoni G, Brambati G, editors. New York: Springer-Verlag
    • Kalousek D. Mosaicism confined to chorionic tissue in human gestations. In: Fraccaro M, Simoni G, Brambati G, editors. First trimester fetal diagnosis. New York: Springer-Verlag, 1985: 130-6
    • (1985) First Trimester Fetal Diagnosis , pp. 130-136
    • Kalousek, D.1
  • 26
    • 0035746379 scopus 로고    scopus 로고
    • American College of medical genetics statement on diagnostic testing for uniparental disomy
    • Shaffer LG, Agan N, Goldberg JD, et al. American College of medical genetics statement on diagnostic testing for uniparental disomy. Genet Med 2001; 3: 206-11
    • (2001) Genet Med , vol.3 , pp. 206-211
    • Shaffer, L.G.1    Agan, N.2    Goldberg, J.D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.