메뉴 건너뛰기




Volumn 75, Issue 2, 1998, Pages 153-158

De novo 7q36 deletion: Breakpoint analysis and types of holoprosencephaly

Author keywords

Holoprosencephaly; HPE3 critical gene region; Terminal 7q deletion

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 7Q; CORPUS CALLOSUM; FEMALE; GENE DELETION; HOLOPROSENCEPHALY; HUMAN; INFANT; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL;

EID: 0031963260     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980113)75:2<153::AID-AJMG6>3.0.CO;2-U     Document Type: Article
Times cited : (30)

References (38)
  • 2
    • 0018836275 scopus 로고
    • Two unrelated children with distal long arm deletion of chromosome 7: Clinical features, cytogenetic and gene marker studies
    • Bernstein R, Dawson B, Morcom G, Wagner J, Jenkins T (1980): Two unrelated children with distal long arm deletion of chromosome 7: Clinical features, cytogenetic and gene marker studies. Clin Genet 17: 228-237.
    • (1980) Clin Genet , vol.17 , pp. 228-237
    • Bernstein, R.1    Dawson, B.2    Morcom, G.3    Wagner, J.4    Jenkins, T.5
  • 4
    • 0024427123 scopus 로고
    • Perspectives on holoprosencephaly. III. Spectra, distinctions, continuities, and discontinuities
    • Cohen MM Jr (1989): Perspectives on holoprosencephaly. III. Spectra, distinctions, continuities, and discontinuities. Am J Med Genet 34:271-288.
    • (1989) Am J Med Genet , vol.34 , pp. 271-288
    • Cohen Jr., M.M.1
  • 5
    • 0027462361 scopus 로고
    • Holoprosencephaly: A family showing dominant inheritance and variable expression
    • Collins AL, Lunt PW, Garrett C, Dennis NR (1993): Holoprosencephaly: A family showing dominant inheritance and variable expression. J Med Genet 30:36-40.
    • (1993) J Med Genet , vol.30 , pp. 36-40
    • Collins, A.L.1    Lunt, P.W.2    Garrett, C.3    Dennis, N.R.4
  • 7
    • 0016209790 scopus 로고
    • Tentative localization of a Hageman (Factor XII) locus on 7q: Probably the 7q35 Band
    • de Grouchy J, Turleau C (1974): Tentative localization of a Hageman (Factor XII) locus on 7q: Probably the 7q35 Band. Humangenetik 24:197-200.
    • (1974) Humangenetik , vol.24 , pp. 197-200
    • De Grouchy, J.1    Turleau, C.2
  • 9
    • 0018279219 scopus 로고
    • Hageman (Factor XII) locus on 7q? Report of a second case with del(7)q35 and normal factor XII level
    • Francke U (1978): Hageman (Factor XII) locus on 7q? Report of a second case with del(7)q35 and normal factor XII level. Hum Genet 45:363-367.
    • (1978) Hum Genet , vol.45 , pp. 363-367
    • Francke, U.1
  • 14
    • 0024588265 scopus 로고
    • Production of a mutation in mouse En-2 gene by homologous recombination in embryonic stem cells
    • Joyner AL, Skarnes WC, Rossant J (1989): Production of a mutation in mouse En-2 gene by homologous recombination in embryonic stem cells. Nature 338:153-156.
    • (1989) Nature , vol.338 , pp. 153-156
    • Joyner, A.L.1    Skarnes, W.C.2    Rossant, J.3
  • 15
    • 0030069671 scopus 로고    scopus 로고
    • Engrailed, Wnt and Pax genes regulate midbrain-hindbrain development
    • Joyner AL (1996): Engrailed, Wnt and Pax genes regulate midbrain-hindbrain development. Trends Genet 12:15-20.
    • (1996) Trends Genet , vol.12 , pp. 15-20
    • Joyner, A.L.1
  • 17
    • 0017594093 scopus 로고
    • A partial long arm deletion of chromosome 7: 46,XY,del(7)(q32)
    • Kousseff BG, Hsu LYF, Paciuc S, Hirschhorn K (1977): A partial long arm deletion of chromosome 7: 46,XY,del(7)(q32). J Med Genet 14:144-147.
    • (1977) J Med Genet , vol.14 , pp. 144-147
    • Kousseff, B.G.1    Hsu, L.Y.F.2    Paciuc, S.3    Hirschhorn, K.4
  • 18
  • 20
    • 0025563509 scopus 로고
    • Two unrelated cases of single maxillary central incisor with 7q terminal deletion
    • Masuno M, Fukushima Y, Sugio Y, Ikeda M, Kuroki Y (1990): Two unrelated cases of single maxillary central incisor with 7q terminal deletion. Jpn J Human Genet 35:311-317.
    • (1990) Jpn J Human Genet , vol.35 , pp. 311-317
    • Masuno, M.1    Fukushima, Y.2    Sugio, Y.3    Ikeda, M.4    Kuroki, Y.5
  • 22
    • 0024420306 scopus 로고
    • Clinical, cytogenetic, and molecular approaches to the genetic heterogeneity of holoprosencephaly
    • Münke M (1989): Clinical, cytogenetic, and molecular approaches to the genetic heterogeneity of holoprosencephaly. Am J Med Genet 34:237-245.
    • (1989) Am J Med Genet , vol.34 , pp. 237-245
    • Münke, M.1
  • 24
    • 0020625809 scopus 로고
    • A case of partial deletion of the long arm of chromosome 7 (7q34→7qter)
    • Nistrup Madsen H, Lundsteen C, Steinrud J (1983): A case of partial deletion of the long arm of chromosome 7 (7q34→7qter). Danish Med Bulletin 30:14-16.
    • (1983) Danish Med Bulletin , vol.30 , pp. 14-16
    • Nistrup Madsen, H.1    Lundsteen, C.2    Steinrud, J.3
  • 25
    • 16444387207 scopus 로고    scopus 로고
    • Caudal deficiency sequence in a 7 year old girl with a terminal microdeletion of the long arm of chromosome 7 (7q36.3)
    • Petrusevska R, Seeger J, Fuchs S (1996): Caudal deficiency sequence in a 7 year old girl with a terminal microdeletion of the long arm of chromosome 7 (7q36.3). Med Genetik 1:88.
    • (1996) Med Genetik , vol.1 , pp. 88
    • Petrusevska, R.1    Seeger, J.2    Fuchs, S.3
  • 28
    • 0029924653 scopus 로고    scopus 로고
    • Assignment of the 5-hydroxytryptamine (serotoni)receptor 5A gene (HTR5A) to human chromosome band 7q36.1
    • Schanen NC, Scherer SW, Tsui L-C, Francke U (1996): Assignment of the 5-hydroxytryptamine (serotoni)receptor 5A gene (HTR5A) to human chromosome band 7q36.1. Cytogenet Cell Genet 72:187-188.
    • (1996) Cytogenet Cell Genet , vol.72 , pp. 187-188
    • Schanen, N.C.1    Scherer, S.W.2    Tsui, L.-C.3    Francke, U.4
  • 30
    • 0020754685 scopus 로고
    • Brief clinical report: Cebocephaly-holoprosencephaly in a newborn girl with a terminal 7q deletion [46,XX,del(7)(pter→q32:)]
    • Schwartz S, Meekins JA, Panny SR, Sun C-CJ, Cohen MM (1983): Brief clinical report: Cebocephaly-holoprosencephaly in a newborn girl with a terminal 7q deletion [46,XX,del(7)(pter→q32:)]. Am J Med Genet 15: 141-144.
    • (1983) Am J Med Genet , vol.15 , pp. 141-144
    • Schwartz, S.1    Meekins, J.A.2    Panny, S.R.3    Sun, C.-C.J.4    Cohen, M.M.5
  • 31
    • 0030039249 scopus 로고    scopus 로고
    • Two Pax-binding sites are required for early embryonic brain expression of an Engrailed-2 transgene
    • Song D-L, Chalepakis G, Gruss P, Joyner AL (1996): Two Pax-binding sites are required for early embryonic brain expression of an Engrailed-2 transgene. Development 122:627-635.
    • (1996) Development , vol.122 , pp. 627-635
    • Song, D.-L.1    Chalepakis, G.2    Gruss, P.3    Joyner, A.L.4
  • 32
    • 0028069495 scopus 로고
    • Assignment of the human PAX4 gene to chromosome band 7q32 by fluorescence in situ hybridization
    • Tamura T, Izumikawa Y, Kishino T, Soejima H, Jinno Y, Niikawa N (1994): Assignment of the human PAX4 gene to chromosome band 7q32 by fluorescence in situ hybridization. Cytogenet Cell Genet 66:132-134.
    • (1994) Cytogenet Cell Genet , vol.66 , pp. 132-134
    • Tamura, T.1    Izumikawa, Y.2    Kishino, T.3    Soejima, H.4    Jinno, Y.5    Niikawa, N.6
  • 33
    • 0019976804 scopus 로고
    • Terminal long arm deletion of chromosome 7 and retino-choroidal coloboma
    • Taysi K, Burde RM, Rohrbaugh JR (1982): Terminal long arm deletion of chromosome 7 and retino-choroidal coloboma. Ann Genet 25:159-161.
    • (1982) Ann Genet , vol.25 , pp. 159-161
    • Taysi, K.1    Burde, R.M.2    Rohrbaugh, J.R.3
  • 34
    • 0023866947 scopus 로고
    • Congenital heart defect in a patient with deletion of chromosome 7q
    • Tiller GE, Watson MS, Duncan LM, Dowton SB (1988): Congenital heart defect in a patient with deletion of chromosome 7q. Am J Med Genet 29:283-287.
    • (1988) Am J Med Genet , vol.29 , pp. 283-287
    • Tiller, G.E.1    Watson, M.S.2    Duncan, L.M.3    Dowton, S.B.4
  • 35
    • 0029042877 scopus 로고
    • Report on the second international workshop on Human Chromosome 7 mapping 1994
    • Tsui L-C, Donis-Keller H, Grzeschik K-H (1995): Report on the second international workshop on Human Chromosome 7 mapping 1994. Cytogenet Cell Genet 71:1-31.
    • (1995) Cytogenet Cell Genet , vol.71 , pp. 1-31
    • Tsui, L.-C.1    Donis-Keller, H.2    Grzeschik, K.-H.3
  • 37
    • 0028912894 scopus 로고
    • Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay
    • Warburg M, Bugge M, Brøndum-Nielsen K (1995): Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay. J Med Genet 32:19-24.
    • (1995) J Med Genet , vol.32 , pp. 19-24
    • Warburg, M.1    Bugge, M.2    Brøndum-Nielsen, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.