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Volumn 66, Issue 3, 2000, Pages 1138-1144

Cloning, sequencing, and analysis of Inv8 chromosome breakpoints associated recombinant 8 syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ALU SEQUENCE; ARTICLE; CASE REPORT; CHROMOSOME 8; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME DUPLICATION; CONGENITAL HEART MALFORMATION; FACIES; FEMALE; GENETIC RECOMBINATION; HUMAN; HUMAN CELL; LONG TERMINAL REPEAT; MENTAL RETARDATION MALFORMATION SYNDROME; MOLECULAR CLONING; MULTIGENE FAMILY; NEWBORN; NUCLEOTIDE SEQUENCE; PERICENTRIC CHROMOSOME INVERSION; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE;

EID: 0033941916     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302821     Document Type: Article
Times cited : (27)

References (49)
  • 2
    • 0028297940 scopus 로고
    • Prototelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8
    • Barber JCK, James RS, Patch C, Temple IK (1994) Prototelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8. Am J Med Genet 50:296-299
    • (1994) Am J Med Genet , vol.50 , pp. 296-299
    • Barber, J.C.K.1    James, R.S.2    Patch, C.3    Temple, I.K.4
  • 4
    • 0021112243 scopus 로고
    • The human growth hormone gene family: Structure and evolution of the chromosome locus
    • Barsh GS, Seeburg PH, Gelinas RE (1983) The human growth hormone gene family: structure and evolution of the chromosome locus. Nucleic Acids Res 11:3939-3958
    • (1983) Nucleic Acids Res , vol.11 , pp. 3939-3958
    • Barsh, G.S.1    Seeburg, P.H.2    Gelinas, R.E.3
  • 5
    • 0025362780 scopus 로고
    • Partial monosomy 8p with minimal dysmorphic signs
    • Blennow E, Brondum-Nielsen K (1990) Partial monosomy 8p with minimal dysmorphic signs. J Med Genet 27:327-329
    • (1990) J Med Genet , vol.27 , pp. 327-329
    • Blennow, E.1    Brondum-Nielsen, K.2
  • 6
    • 0028998317 scopus 로고
    • Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene
    • Budarf ML, Collins J, Gong W, Roe B, Wang Z, Bailey LC, Sellinger B, et al (1995) Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. Nat Genet 10:269-278
    • (1995) Nat Genet , vol.10 , pp. 269-278
    • Budarf, M.L.1    Collins, J.2    Gong, W.3    Roe, B.4    Wang, Z.5    Bailey, L.C.6    Sellinger, B.7
  • 9
    • 0023257421 scopus 로고
    • Inverted tandem duplication generates a duplication deficiency of chromosome 8p
    • Dill FJ, Schertzer M, Sandercock J, Tischler B, Wood S (1987) Inverted tandem duplication generates a duplication deficiency of chromosome 8p. Clin Genet 32:109-113
    • (1987) Clin Genet , vol.32 , pp. 109-113
    • Dill, F.J.1    Schertzer, M.2    Sandercock, J.3    Tischler, B.4    Wood, S.5
  • 10
    • 0021910005 scopus 로고
    • Isolation and analysis of the 21q+ chromosome in the acute myelogenous leukemia 8;21 translocation: Evidence that c-mos is not translocated
    • Drabkin HA, Diaz M, Bradley CM, LeBeau MM, Rowley JD, Patterson D (1985) Isolation and analysis of the 21q+ chromosome in the acute myelogenous leukemia 8;21 translocation: evidence that c-mos is not translocated. Proc Natl Acad Sci USA 82:464-468
    • (1985) Proc Natl Acad Sci USA , vol.82 , pp. 464-468
    • Drabkin, H.A.1    Diaz, M.2    Bradley, C.M.3    LeBeau, M.M.4    Rowley, J.D.5    Patterson, D.6
  • 12
    • 0023778184 scopus 로고
    • The coagulation factor VII regulator is located on 8p23.1
    • Pagan K, Wilkinson I, Allen M, Brownlea S (1988) The coagulation factor VII regulator is located on 8p23.1. Hum Genet 79:365-367
    • (1988) Hum Genet , vol.79 , pp. 365-367
    • Pagan, K.1    Wilkinson, I.2    Allen, M.3    Brownlea, S.4
  • 15
    • 0024419437 scopus 로고
    • Normal phenotype and slight mental retardation in de novo distal 8p deletion (8pter-8p23.1:)
    • Fryns JP, Kleczkowska A, Vogels A, Van den Berghe H (1989) Normal phenotype and slight mental retardation in de novo distal 8p deletion (8pter-8p23.1:). Ann Genet 32:171-173
    • (1989) Ann Genet , vol.32 , pp. 171-173
    • Fryns, J.P.1    Kleczkowska, A.2    Vogels, A.3    Van den Berghe, H.4
  • 16
    • 0016609108 scopus 로고
    • Familial inversion of chromosome no. 8: An affected child and a carrier fetus
    • Fujimoto A, Wilson MG, Towner JW (1975) Familial inversion of chromosome no. 8: an affected child and a carrier fetus. Humangenetik 27:67-73
    • (1975) Humangenetik , vol.27 , pp. 67-73
    • Fujimoto, A.1    Wilson, M.G.2    Towner, J.W.3
  • 17
    • 0025016822 scopus 로고
    • Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction
    • Green ED, Oison MV (1990) Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction. Proc Natl Acad Sci USA 87:1213-1217
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 1213-1217
    • Green, E.D.1    Oison, M.V.2
  • 18
    • 0029087828 scopus 로고
    • Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization
    • Guo W-J, Callif-Daley F, Zapata MC, Miller ME (1995) Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization. Am J Med Genet 58: 230-236
    • (1995) Am J Med Genet , vol.58 , pp. 230-236
    • Guo, W.-J.1    Callif-Daley, F.2    Zapata, M.C.3    Miller, M.E.4
  • 19
    • 0026457149 scopus 로고
    • Characterization of an inversion duplication of the short arm of chromosome 8 by fluorescent in situ hybridization
    • Henderson KG, Dill FJ, Wood S (1992) Characterization of an inversion duplication of the short arm of chromosome 8 by fluorescent in situ hybridization. Am J Med Genet 44: 615-618
    • (1992) Am J Med Genet , vol.44 , pp. 615-618
    • Henderson, K.G.1    Dill, F.J.2    Wood, S.3
  • 20
    • 0022491708 scopus 로고
    • A gene deletion ending within a complex array of repeated sequences 3′ to the human beta-globin gene cluster
    • Henthorn PS, Mager DL, Huisman TH, Smithies O (1986) A gene deletion ending within a complex array of repeated sequences 3′ to the human beta-globin gene cluster. Proc Natl Acad Sci USA 83:5194-5198
    • (1986) Proc Natl Acad Sci USA , vol.83 , pp. 5194-5198
    • Henthorn, P.S.1    Mager, D.L.2    Huisman, T.H.3    Smithies, O.4
  • 21
    • 0022896206 scopus 로고
    • Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia
    • Hobbs HH, Brown MS, Goldstein JL, Russell DW (1986) Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia. J Biol Chem 261: 13114-13120
    • (1986) J Biol Chem , vol.261 , pp. 13114-13120
    • Hobbs, H.H.1    Brown, M.S.2    Goldstein, J.L.3    Russell, D.W.4
  • 22
    • 0024410226 scopus 로고
    • Hypobetalipoproteinemia due to an apolipoprotein B gene exon 21 deletion derived by Alu-Alu recombination
    • Huang LS, Ripps ME, Korman SH, Deckelbaum RJ, Breslow JL (1989) Hypobetalipoproteinemia due to an apolipoprotein B gene exon 21 deletion derived by Alu-Alu recombination. J Biol Chem 264:11394-11400
    • (1989) J Biol Chem , vol.264 , pp. 11394-11400
    • Huang, L.S.1    Ripps, M.E.2    Korman, S.H.3    Deckelbaum, R.J.4    Breslow, J.L.5
  • 23
    • 0026772983 scopus 로고
    • Distal 8p deletion (8p23.1-8pter): A common deletion?
    • Hutchinson R, Wilson M, Voullaire L (1992) Distal 8p deletion (8p23.1-8pter): a common deletion? J Med Genet 29:407-411
    • (1992) J Med Genet , vol.29 , pp. 407-411
    • Hutchinson, R.1    Wilson, M.2    Voullaire, L.3
  • 24
    • 0019494231 scopus 로고
    • Assignment of the gene coding for phosphoribosylglycineamide formyltransferase to human chromosome 14
    • Jones C, Patterson D, Kao F-T (1981) Assignment of the gene coding for phosphoribosylglycineamide formyltransferase to human chromosome 14. Somatic Cell Genet 7:399-409
    • (1981) Somatic Cell Genet , vol.7 , pp. 399-409
    • Jones, C.1    Patterson, D.2    Kao, F.-T.3
  • 25
    • 0031714588 scopus 로고    scopus 로고
    • Molecular cloning of the chromosomal breakpoint in the LIS1 gene of a patient with isolated lissencephaly and balanced t(8;17)
    • Kurahashi H, Sakamoto M, Ono J, Honda A, Okada S, Nakamura Y (1998) Molecular cloning of the chromosomal breakpoint in the LIS1 gene of a patient with isolated lissencephaly and balanced t(8;17). Hum Genet 103:189-192
    • (1998) Hum Genet , vol.103 , pp. 189-192
    • Kurahashi, H.1    Sakamoto, M.2    Ono, J.3    Honda, A.4    Okada, S.5    Nakamura, Y.6
  • 26
    • 0025128991 scopus 로고
    • High resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones
    • Lichter P, Tang CJ, Call K, Hermanson G, Evans GA, Housman D, Ward DC (1990) High resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones. Science 247:64-69
    • (1990) Science , vol.247 , pp. 64-69
    • Lichter, P.1    Tang, C.J.2    Call, K.3    Hermanson, G.4    Evans, G.A.5    Housman, D.6    Ward, D.C.7
  • 27
    • 0027428375 scopus 로고
    • D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p)
    • Minelli A, Floridia G, Rossi E, Clementi M, Tenconi R, Camurri L, Bernardi F, et al (1993) D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p). Hum Genet 92:391-396
    • (1993) Hum Genet , vol.92 , pp. 391-396
    • Minelli, A.1    Floridia, G.2    Rossi, E.3    Clementi, M.4    Tenconi, R.5    Camurri, L.6    Bernardi, F.7
  • 28
    • 0028008985 scopus 로고
    • U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8
    • Mitchell JJ, Vekemans M, Luscombe S, Hayden M, Weber B, Richter A, Sparkes R, et al (1994) U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8. Am J Med Genet 49:384-387
    • (1994) Am J Med Genet , vol.49 , pp. 384-387
    • Mitchell, J.J.1    Vekemans, M.2    Luscombe, S.3    Hayden, M.4    Weber, B.5    Richter, A.6    Sparkes, R.7
  • 29
    • 0017645849 scopus 로고
    • Synteny between glycinamide ribonucleotide synthetase and superoxide dismutase (soluble)
    • Moore EE, Jones C, Kao F-T, Oates DC (1977) Synteny between glycinamide ribonucleotide synthetase and superoxide dismutase (soluble). Am J Hum Genet 29:389-396
    • (1977) Am J Hum Genet , vol.29 , pp. 389-396
    • Moore, E.E.1    Jones, C.2    Kao, F.-T.3    Oates, D.C.4
  • 30
    • 0022553788 scopus 로고
    • A routine method for the establishment of permanent growing lymphoblastoid cell lines
    • Neitzel H (1986) A routine method for the establishment of permanent growing lymphoblastoid cell lines. Hum Genet 73:320-326
    • (1986) Hum Genet , vol.73 , pp. 320-326
    • Neitzel, H.1
  • 31
    • 0025064080 scopus 로고
    • Inverted tandem duplication of 8p12-p23.1 in a child with increased activity of glutathione reductase
    • Nevin NC, Morrison PJ, Jones J, Reid MM (1990) Inverted tandem duplication of 8p12-p23.1 in a child with increased activity of glutathione reductase. J Med Genet 27:135-136
    • (1990) J Med Genet , vol.27 , pp. 135-136
    • Nevin, N.C.1    Morrison, P.J.2    Jones, J.3    Reid, M.M.4
  • 32
    • 0023647951 scopus 로고
    • Recombination at the human alpha-globin gene cluster: Sequence features and topological constraints
    • Nicholls RD, Fischel-Ghodsian N, Higgs DR (1987) Recombination at the human alpha-globin gene cluster: sequence features and topological constraints. Cell 49:369-378
    • (1987) Cell , vol.49 , pp. 369-378
    • Nicholls, R.D.1    Fischel-Ghodsian, N.2    Higgs, D.R.3
  • 33
    • 0028073694 scopus 로고
    • A stable acentric marker chromosome: Possible existence of an intercalary ancient centromere at distal 8p
    • Ohashi H, Wakui K, Ogawa K, Okano T, Niikawa N, Fukushima Y (1994) A stable acentric marker chromosome: possible existence of an intercalary ancient centromere at distal 8p. Am J Hum Genet 55:1202-1208
    • (1994) Am J Hum Genet , vol.55 , pp. 1202-1208
    • Ohashi, H.1    Wakui, K.2    Ogawa, K.3    Okano, T.4    Niikawa, N.5    Fukushima, Y.6
  • 35
    • 0027499509 scopus 로고
    • Molecular cytogenetic characterization of a Chinese hamster/human hybrid cell line containing a der (21)t(Ypter→cenY::cen21→21qter) chromosome
    • Patterson D, Hart I, Lai LW, Brahe C, Moscetti A, Tassone F, Raimondi E, et al (1993) Molecular cytogenetic characterization of a Chinese hamster/human hybrid cell line containing a der (21)t(Ypter→cenY::cen21→21qter) chromosome. Genomics 15:177-179
    • (1993) Genomics , vol.15 , pp. 177-179
    • Patterson, D.1    Hart, I.2    Lai, L.W.3    Brahe, C.4    Moscetti, A.5    Tassone, F.6    Raimondi, E.7
  • 36
    • 0025220682 scopus 로고
    • Deficiency of distal 8p - Report of two cases and review of the literature
    • Pecilc V, Petroni MG, Fertz MC, Filippi G (1990) Deficiency of distal 8p - report of two cases and review of the literature. Clin Genet 37:271-278
    • (1990) Clin Genet , vol.37 , pp. 271-278
    • Pecilc, V.1    Petroni, M.G.2    Fertz, M.C.3    Filippi, G.4
  • 37
    • 0026785695 scopus 로고
    • Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation
    • Pettenati MJ, Rao N, Johnson C, Hayworth R, Crandall K, Huff O, Thomas IT (1992) Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation. Hum Genet 89:602-606
    • (1992) Hum Genet , vol.89 , pp. 602-606
    • Pettenati, M.J.1    Rao, N.2    Johnson, C.3    Hayworth, R.4    Crandall, K.5    Huff, O.6    Thomas, I.T.7
  • 38
    • 0027024025 scopus 로고
    • Using bacteriophage P1 system to clone high molecular weight genomic DNA
    • Pierce JC, Sternberg NL (1992) Using bacteriophage P1 system to clone high molecular weight genomic DNA. Methods Enzymol 216:549-574
    • (1992) Methods Enzymol , vol.216 , pp. 549-574
    • Pierce, J.C.1    Sternberg, N.L.2
  • 39
    • 0028967353 scopus 로고
    • One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi
    • Rudiger NS, Gregersen N, Kielland-Brandt MC (1995) One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi. Nucleic Acids Res 23:256-260
    • (1995) Nucleic Acids Res , vol.23 , pp. 256-260
    • Rudiger, N.S.1    Gregersen, N.2    Kielland-Brandt, M.C.3
  • 41
    • 0022253581 scopus 로고
    • High-resolution chromosomes of Rhesus macaques (Macaca mulatta)
    • Small MF, Stanyon R, Smith DG, Sineo L (1985) High-resolution chromosomes of Rhesus macaques (Macaca mulatta). Am J Primatol 9:63-67
    • (1985) Am J Primatol , vol.9 , pp. 63-67
    • Small, M.F.1    Stanyon, R.2    Smith, D.G.3    Sineo, L.4
  • 42
    • 0023574336 scopus 로고
    • Genetic risk for recombinant 8 syndrome and the transmission rate of balanced inversion 8 in the Hispanic population of the southwestern United States
    • Smith ACM, Spuhler K, Williams TM, McConnell T, Sujansky E, Robinson A (1987) Genetic risk for recombinant 8 syndrome and the transmission rate of balanced inversion 8 in the Hispanic population of the southwestern United States. Am J Hum Genet 41:1083-1103
    • (1987) Am J Hum Genet , vol.41 , pp. 1083-1103
    • Smith, A.C.M.1    Spuhler, K.2    Williams, T.M.3    McConnell, T.4    Sujansky, E.5    Robinson, A.6
  • 43
    • 0025096719 scopus 로고
    • Bacteriophage P1 cloning system for the isolation, amplification, and recovery of DNA fragments as large as 100 kilobase pairs
    • Sternberg N (1990) Bacteriophage P1 cloning system for the isolation, amplification, and recovery of DNA fragments as large as 100 kilobase pairs. Proc Natl Acad Sci USA 87: 103-107
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 103-107
    • Sternberg, N.1
  • 47
    • 0021044855 scopus 로고
    • Unexpected relationships between four large deletions in the human beta-globin gene cluster
    • Vanin EF, Henthorn PS, Kioussis D, Grosveld F, Smithies O (1983) Unexpected relationships between four large deletions in the human beta-globin gene cluster. Cell 35:701-709
    • (1983) Cell , vol.35 , pp. 701-709
    • Vanin, E.F.1    Henthorn, P.S.2    Kioussis, D.3    Grosveld, F.4    Smithies, O.5
  • 48
    • 0026513581 scopus 로고
    • Homologies in human and Macaca fuscata chromosomes revealed by in situ suppression hybridization with human chromosome specific DNA libraries
    • Weinberg J, Stanyon R, Jauch A, Cremer T (1992) Homologies in human and Macaca fuscata chromosomes revealed by in situ suppression hybridization with human chromosome specific DNA libraries. Chromosoma 101:265-270
    • (1992) Chromosoma , vol.101 , pp. 265-270
    • Weinberg, J.1    Stanyon, R.2    Jauch, A.3    Cremer, T.4
  • 49
    • 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 B-L, Schneider GH, Sabatino DE, Bozovic JZ, Cao B, Korf BR (1996) 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 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, J.Z.4    Cao, B.5    Korf, B.R.6


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