메뉴 건너뛰기




Volumn 19, Issue 12, 1999, Pages 1150-1156

Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat

Author keywords

Duplication 7q; Partial trisomy 7q; Pericentric inversion; Recombinant chromosome

Indexed keywords

ADULT; ARTICLE; BRAIN VENTRICLE; CASE REPORT; CHROMOSOME 7; CHROMOSOME 7Q; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; FACE DYSMORPHIA; FAMILY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC RECOMBINATION; HUMAN; HUMAN TISSUE; MALE; MEIOSIS; MONOSOMY; NECK; NEWBORN; PARTIAL TRISOMY; PERICENTRIC CHROMOSOME INVERSION; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RETROGNATHIA; SKELETON MALFORMATION; TELOMERE;

EID: 0032703542     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199912)19:12<1150::AID-PD733>3.0.CO;2-0     Document Type: Article
Times cited : (11)

References (20)
  • 3
    • 0026090304 scopus 로고
    • A malformed child with a recombinant chromosome 7, rec (7) dup p, derived from a maternal pericentric inversion inv(7)(p15q36)
    • Delicado A, Escribano E, Pajares IL, Bustamante D, Carrasc A. 1991. A malformed child with a recombinant chromosome 7, rec (7) dup p, derived from a maternal pericentric inversion inv(7)(p15q36). J Med Genet 28: 126-127.
    • (1991) J Med Genet , vol.28 , pp. 126-127
    • Delicado, A.1    Escribano, E.2    Pajares, I.L.3    Bustamante, D.4    Carrasc, A.5
  • 7
    • 0026451619 scopus 로고
    • De novo inverted duplication of chromosome 7q
    • Haslam JS, Norman AM. 1992. De novo inverted duplication of chromosome 7q. J Med Genet 29: 837-838.
    • (1992) J Med Genet , vol.29 , pp. 837-838
    • Haslam, J.S.1    Norman, A.M.2
  • 8
    • 0020451792 scopus 로고
    • Tiny interstitial duplication of proximal 7q in association with a maternal paracentric inversion
    • Hoo JJ, Lorenz R, Fischer A, Fuhrmann W. 1982. Tiny interstitial duplication of proximal 7q in association with a maternal paracentric inversion. Hum Genet 62: 113-116.
    • (1982) Hum Genet , vol.62 , pp. 113-116
    • Hoo, J.J.1    Lorenz, R.2    Fischer, A.3    Fuhrmann, W.4
  • 9
    • 0030691898 scopus 로고    scopus 로고
    • Case report of rec(7)dup(7q)inv(7)(p22q22) and a review of the recombinants resulting from parental pericentric inversions on any chromosomes
    • Ishii F, Fujita H, Nagai A, Ogihara T, Kim H-S, Okamoto R, Mino M. 1997. Case report of rec(7)dup(7q)inv(7)(p22q22) and a review of the recombinants resulting from parental pericentric inversions on any chromosomes. Am J Med Genet 73: 290-295.
    • (1997) Am J Med Genet , vol.73 , pp. 290-295
    • Ishii, F.1    Fujita, H.2    Nagai, A.3    Ogihara, T.4    Kim, H.-S.5    Okamoto, R.6    Mino, M.7
  • 10
    • 0021710068 scopus 로고
    • Pericentric inversion: Problems and significance for clinical genetics
    • Kaiser P. 1984. Pericentric inversion: problems and significance for clinical genetics. Hum Genet 68: 1-47.
    • (1984) Hum Genet , vol.68 , pp. 1-47
    • Kaiser, P.1
  • 13
    • 0022446922 scopus 로고
    • Cytogenetic analysis using quantitative, high sensitivity, fluorescence hybridization
    • Pinkel D, Straume T, Gray JW. 1986. Cytogenetic analysis using quantitative, high sensitivity, fluorescence hybridization. Proc Nat Acad Sci U S A 83: 2934-2938.
    • (1986) Proc Nat Acad Sci U S A , vol.83 , pp. 2934-2938
    • Pinkel, D.1    Straume, T.2    Gray, J.W.3
  • 14
    • 0025754749 scopus 로고
    • Malformations in a child with dup(7pter-p15.1) and del(7q36-qter) as a result of familial pericentric inversion
    • Ramer JC, Mowrey PN, Ladda RL. 1991. Malformations in a child with dup(7pter-p15.1) and del(7q36-qter) as a result of familial pericentric inversion. Clin Genet 39: 442-450.
    • (1991) Clin Genet , vol.39 , pp. 442-450
    • Ramer, J.C.1    Mowrey, P.N.2    Ladda, R.L.3
  • 16
    • 0029932866 scopus 로고    scopus 로고
    • Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion
    • Shashi V, Golden WL, Allinson PS, Blanton SH, Kap-Herr CV, Kelly TE. 1996. Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion. Am J Hum Genet 58: 1231-1238.
    • (1996) Am J Hum Genet , vol.58 , pp. 1231-1238
    • Shashi, V.1    Golden, W.L.2    Allinson, P.S.3    Blanton, S.H.4    Kap-Herr, C.V.5    Kelly, T.E.6
  • 19
    • 0026589393 scopus 로고
    • Tandem duplication of the terminal band of the long arm of chromosome 7 (dir dup (7)(q36→qter))
    • Verma RS, Conte RA, Pitter JH. 1992. Tandem duplication of the terminal band of the long arm of chromosome 7 (dir dup (7)(q36→qter)). J Med Genet 29: 344-345.
    • (1992) J Med Genet , vol.29 , pp. 344-345
    • Verma, R.S.1    Conte, R.A.2    Pitter, J.H.3
  • 20
    • 0017876964 scopus 로고
    • Meiotic analysis of a pericentric inversion, inv(7)(p22q32), in the father of a child with a duplication-deletion of chromosome 7
    • Winsor EJT, Palmer CG, Ellis PM, Hunter JLP, Ferguson-Smith MA. 1978. Meiotic analysis of a pericentric inversion, inv(7)(p22q32), in the father of a child with a duplication-deletion of chromosome 7. Cytogenet Cell Genet 20: 169-184.
    • (1978) Cytogenet Cell Genet , vol.20 , pp. 169-184
    • Winsor, E.J.T.1    Palmer, C.G.2    Ellis, P.M.3    Hunter, J.L.P.4    Ferguson-Smith, M.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.