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Volumn 27, Issue 2, 2006, Pages 133-137

Paternal uniparental isodisomy of the entire chromosome 3 revealed in a person with no apparent phenotypic disorders

Author keywords

Imprinted; Isodisomy; Paternal; Uniparental disomy; UPD; UPD3

Indexed keywords

ARTICLE; BONE DENSITY; CASE REPORT; CHROMOSOME 3; GENE IDENTIFICATION; GENETIC DISORDER; GENETIC LINKAGE; GENOME IMPRINTING; HUMAN; MALE; PATERNITY; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; RARE DISEASE; UNIPARENTAL DISOMY;

EID: 32544458483     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20302     Document Type: Article
Times cited : (19)

References (30)
  • 4
    • 0033613991 scopus 로고    scopus 로고
    • Investigation of two cases of paternal disomy 13 suggests timing of isochromosome formation and mechanisms leading to uniparental disomy
    • Berend SA, Feldman GL, McCaskill C, Czarnecki P, Van Dyke DL, Shaffer LG. 1999. Investigation of two cases of paternal disomy 13 suggests timing of isochromosome formation and mechanisms leading to uniparental disomy. Am J Med Genet 82:275-281.
    • (1999) Am J Med Genet , vol.82 , pp. 275-281
    • Berend, S.A.1    Feldman, G.L.2    McCaskill, C.3    Czarnecki, P.4    Van Dyke, D.L.5    Shaffer, L.G.6
  • 5
    • 0016153298 scopus 로고
    • Hétérozygotic et homozygotic pour un inversion péricentrique du 3 humain
    • Betz A, Turleau C, de Grouchy J. 1974. Hétérozygotic et homozygotic pour un inversion péricentrique du 3 humain. Ann Genet 17:77-80.
    • (1974) Ann Genet , vol.17 , pp. 77-80
    • Betz, A.1    Turleau, C.2    De Grouchy, J.3
  • 7
    • 0023071678 scopus 로고
    • An improved method for preparing G-banded chromosomes from mouse peripheral blood
    • Davisson MT, Akeson EC. 1987. An improved method for preparing G-banded chromosomes from mouse peripheral blood. Cytogenet Cell Genet 45:70-74.
    • (1987) Cytogenet Cell Genet , vol.45 , pp. 70-74
    • Davisson, M.T.1    Akeson, E.C.2
  • 8
    • 0029839166 scopus 로고    scopus 로고
    • Der(22)t(11;22) resulting from a paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22
    • Dawson AJ, Mears AJ, Chudley AE, Bech-Hansen T, McDermid H. 1996. Der(22)t(11;22) resulting from a paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22. J Med Genet 33:952-956.
    • (1996) J Med Genet , vol.33 , pp. 952-956
    • Dawson, A.J.1    Mears, A.J.2    Chudley, A.E.3    Bech-Hansen, T.4    McDermid, H.5
  • 9
    • 0028044611 scopus 로고
    • No uniparental disomy for chromosome 3 in Brachmann-De Lange syndrome
    • De Marchi N, Antonarakis SE, Jackson L. 1994. No uniparental disomy for chromosome 3 in Brachmann-De Lange syndrome. Am J Med Genet 49:133-135.
    • (1994) Am J Med Genet , vol.49 , pp. 133-135
    • De Marchi, N.1    Antonarakis, S.E.2    Jackson, L.3
  • 11
    • 0018939994 scopus 로고
    • A new genetic concept: Uniparental disomy and its potential effect, isodisomy
    • Engel E. 1980. A new genetic concept: uniparental disomy and its potential effect, isodisomy. Am J Med Genet 6:137-143.
    • (1980) Am J Med Genet , vol.6 , pp. 137-143
    • Engel, E.1
  • 12
    • 0032231561 scopus 로고    scopus 로고
    • Uniparental disomies in unselected populations
    • Engel E. 1998. Uniparental disomies in unselected populations. Am J Hum Genet 63:962-966.
    • (1998) Am J Hum Genet , vol.63 , pp. 962-966
    • Engel, E.1
  • 13
    • 0032231302 scopus 로고    scopus 로고
    • Maternal uniparental disomy of chromosome 1 with no apparent phenotypic effects
    • Field LL, Tobias R, Robinson WP, Paisey R, Bain S. 1998. Maternal uniparental disomy of chromosome 1 with no apparent phenotypic effects. Am J Hum Genet 63:1216-1220.
    • (1998) Am J Hum Genet , vol.63 , pp. 1216-1220
    • Field, L.L.1    Tobias, R.2    Robinson, W.P.3    Paisey, R.4    Bain, S.5
  • 17
    • 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. 1999. Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15. Am J Med Genet 82:265-274.
    • (1999) Am J Med Genet , vol.82 , pp. 265-274
    • Kotzot, D.1
  • 18
    • 0036707790 scopus 로고    scopus 로고
    • Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15
    • Kotzot D. 2002. Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15. Am J Med Genet 111:366-375.
    • (2002) Am J Med Genet , vol.111 , pp. 366-375
    • Kotzot, D.1
  • 20
    • 0029162269 scopus 로고
    • Uniparental disomy in humans: Development of an imprinting map and its implications for prenatal diagnosis
    • Ledbetter DH, Engel E. 1995. Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet 4(Spec No):1757-1764.
    • (1995) Hum Mol Genet , vol.4 , Issue.SPEC. NO. , pp. 1757-1764
    • Ledbetter, D.H.1    Engel, E.2
  • 22
    • 0032581119 scopus 로고    scopus 로고
    • Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2)
    • Park JP, Moeschler JB, Hani VH, Hawk AB, Belloni DR, Noll WW, Mohandas TK. 1998. Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2). Am J Med Genet 78:134-139.
    • (1998) Am J Med Genet , vol.78 , pp. 134-139
    • Park, J.P.1    Moeschler, J.B.2    Hani, V.H.3    Hawk, A.B.4    Belloni, D.R.5    Noll, W.W.6    Mohandas, T.K.7
  • 25
    • 18844446449 scopus 로고    scopus 로고
    • CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3qter)
    • Schollen E, Grunewald S, Keldermans L, Albrecht B, Korner C, Matthijs G. 2005. CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3qter). Eur J Med Genet 48:153-158.
    • (2005) Eur J Med Genet , vol.48 , pp. 153-158
    • Schollen, E.1    Grunewald, S.2    Keldermans, L.3    Albrecht, B.4    Korner, C.5    Matthijs, G.6
  • 26
    • 0027160691 scopus 로고
    • Genetic syndromes and uniparental disomy: A study of 16 cases of Brachmann-de Lange syndrome
    • Shaffer LG, Overhauser J, Jackson LG, Ledbetter DH. 1993. Genetic syndromes and uniparental disomy: a study of 16 cases of Brachmann-de Lange syndrome. Am J Med Genet 47:383-386.
    • (1993) Am J Med Genet , vol.47 , pp. 383-386
    • Shaffer, L.G.1    Overhauser, J.2    Jackson, L.G.3    Ledbetter, D.H.4
  • 28
    • 0036453493 scopus 로고    scopus 로고
    • Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations
    • Spiekerkoetter U, Eeds A, Yue Z, Haines J, Strauss AW, Summar M. 2002. Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations. Hum Mutat 20:447-451.
    • (2002) Hum Mutat , vol.20 , pp. 447-451
    • Spiekerkoetter, U.1    Eeds, A.2    Yue, Z.3    Haines, J.4    Strauss, A.W.5    Summar, M.6
  • 29
    • 0025819444 scopus 로고
    • Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier
    • Wang JC, Passage MB, Yen PH, Shapiro LJ, Mohandas TK. 1991. Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier. Am J Hum Genet 48:1069-1074.
    • (1991) Am J Hum Genet , vol.48 , pp. 1069-1074
    • Wang, J.C.1    Passage, M.B.2    Yen, P.H.3    Shapiro, L.J.4    Mohandas, T.K.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.