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Volumn 35, Issue 1, 1998, Pages 75-77

Partial trisomy 1(q42→qter): A new case with a mild phenotype

Author keywords

Translocation (1; 8)(q42.1; p23.3); Trisomy 1q42 qter

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 1Q; CHROMOSOME 8P; CHROMOSOME DELETION; FACE DYSMORPHIA; FEMALE; GROWTH RETARDATION; HUMAN; HUMAN CELL; INFANT; KARYOTYPE 46,XX; PARTIAL TRISOMY; PHENOTYPE; PRIORITY JOURNAL;

EID: 0031960715     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.1.75     Document Type: Article
Times cited : (15)

References (16)
  • 2
    • 0024419437 scopus 로고
    • Normal phenotype and slight mental retardation in the novo distal 8p deletion (8pter→8p23.1)
    • Fryns JP, Kleczkowska A, Vogels A, Van Den Berghe H. Normal phenotype and slight mental retardation in the novo distal 8p deletion (8pter→8p23.1). Ann Genet 1989;32:171-3.
    • (1989) Ann Genet , vol.32 , pp. 171-173
    • Fryns, J.P.1    Kleczkowska, A.2    Vogels, A.3    Van Den Berghe, H.4
  • 3
    • 0025362780 scopus 로고
    • Partial monosomy 8p with minimal dysmorphic signs
    • Blennow E, Brondum-Nielsen K. Partial monosomy 8p with minimal dysmorphic signs. J Med Genet 1990;27:327-9.
    • (1990) J Med Genet , vol.27 , pp. 327-329
    • Blennow, E.1    Brondum-Nielsen, K.2
  • 4
    • 0026772983 scopus 로고
    • Distal deletion (8p23.1→8pter): A common deletion?
    • Hutchinson R, Wilson M, Voullaire L. Distal deletion (8p23.1→8pter): a common deletion? J Med Genet 1992;29:407-71.
    • (1992) J Med Genet , vol.29 , pp. 407-471
    • Hutchinson, R.1    Wilson, M.2    Voullaire, L.3
  • 5
    • 0029653653 scopus 로고
    • A yac contig map of the human genome
    • Chumakov IM, Rigault P, Le Gall I, et al. A yac contig map of the human genome. Nature 1995;377(suppl):175-297.
    • (1995) Nature , vol.377 , Issue.SUPPL. , pp. 175-297
    • Chumakov, I.M.1    Rigault, P.2    Le Gall, I.3
  • 6
    • 0026446099 scopus 로고
    • A second-generation linkage map of the human genome
    • Weissenbach J, Gyapay G, Dib C, et al. A second-generation linkage map of the human genome. Nature 1992;359:794-801.
    • (1992) Nature , vol.359 , pp. 794-801
    • Weissenbach, J.1    Gyapay, G.2    Dib, C.3
  • 7
    • 0028991301 scopus 로고
    • Trisomy 1q42→qter in a sister and brother: Further delineation of the "trisomy 1q42→qter syndrome"
    • Verschuuren-Bemelmans C, Leegte B, Hodenius T, Cobben J. Trisomy 1q42→qter in a sister and brother: further delineation of the "trisomy 1q42→qter syndrome". Am J Med Genet 1995;58:83-6.
    • (1995) Am J Med Genet , vol.58 , pp. 83-86
    • Verschuuren-Bemelmans, C.1    Leegte, B.2    Hodenius, T.3    Cobben, J.4
  • 9
    • 0019210749 scopus 로고
    • Partial trisomy 1 (q42→ter)
    • Leisti J, Aula P. Partial trisomy 1 (q42→ter). Clin Geret 1980;18:371-8.
    • (1980) Clin Geret , vol.18 , pp. 371-378
    • Leisti, J.1    Aula, P.2
  • 10
    • 0027486644 scopus 로고
    • Dup (1q)(q42-qter) syndrome: Case report and review of literature
    • Kennerknecht I, Barbi G, Rodens K. Dup (1q)(q42-qter) syndrome: case report and review of literature. Am J Med Genet 1993;47:1157-60.
    • (1993) Am J Med Genet , vol.47 , pp. 1157-1160
    • Kennerknecht, I.1    Barbi, G.2    Rodens, K.3
  • 11
    • 0018333376 scopus 로고
    • Studio clinico e citogenetico di un caso di trisomia 1q per traslocazione familiare t(1;5)(q42;p15.3)
    • Duillo MT, de Toni T, Cavaliere G. Studio clinico e citogenetico di un caso di trisomia 1q per traslocazione familiare t(1;5)(q42;p15.3). Pathologica 1979;71:233-4.
    • (1979) Pathologica , vol.71 , pp. 233-234
    • Duillo, M.T.1    De Toni, T.2    Cavaliere, G.3
  • 12
    • 0018639946 scopus 로고
    • Multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to partial 1q duplication and possible 18p deletion: A study of four individuals in two families
    • Liberfarb RM, Breg WR, Atkins L, Holmes LB. Multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to partial 1q duplication and possible 18p deletion: a study of four individuals in two families. Am J Med Genet 1979;4:27-37.
    • (1979) Am J Med Genet , vol.4 , pp. 27-37
    • Liberfarb, R.M.1    Breg, W.R.2    Atkins, L.3    Holmes, L.B.4
  • 13
    • 0025729840 scopus 로고
    • Duplication of the distal part of chromosome 1
    • Johnson VP. Duplication of the distal part of chromosome 1. Am J Med Genet 1991;39:258-69.
    • (1991) Am J Med Genet , vol.39 , pp. 258-269
    • Johnson, V.P.1
  • 14
    • 0025220682 scopus 로고
    • Deficiency of distal 8p-: Report of two cases and review of the literature
    • Pecile V, Petroni G, Fertz C, Filippi G. Deficiency of distal 8p-: report of two cases and review of the literature. Clin Genet 1990;37:271-8.
    • (1990) Clin Genet , vol.37 , pp. 271-278
    • Pecile, V.1    Petroni, G.2    Fertz, C.3    Filippi, G.4
  • 15
    • 0029866263 scopus 로고    scopus 로고
    • Distal 8p deletion (8)(p23.1): An easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation
    • Wu BL, Schneider GH, Sabatino DE, Bozovic LZ, Cao B, Korf BR. Distal 8p deletion (8)(p23.1): an easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation. Am J Med Genet 1996:62:77-83.
    • (1996) Am J Med Genet , vol.62 , pp. 77-83
    • Wu, B.L.1    Schneider, G.H.2    Sabatino, D.E.3    Bozovic, L.Z.4    Cao, B.5    Korf, B.R.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.