메뉴 건너뛰기




Volumn 116, Issue 3, 2003, Pages 284-289

Two new cases of analphoid marker chromosomes

Author keywords

Analphoid marker chromosome; Neocentromere; Supernumerary marker chromosome; Tetrasomy 15q24qter; Trisomy 1q43q44

Indexed keywords

ABORTION; ARTICLE; AUTOPSY; CASE REPORT; CHROMOSOME 15Q; CHROMOSOME 1Q; CHROMOSOME MICRODISSECTION; CHROMOSOME PAINTING; CHROMOSOME REARRANGEMENT; CONGENITAL HEART DISEASE; CYTOGENETICS; DNA PROBE; FETUS; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC COUNSELING; GENETIC RISK; HUMAN; HYDRONEPHROSIS; KARYOTYPE; MARKER CHROMOSOME; MOLECULAR GENETICS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RING CHROMOSOME; RISK ASSESSMENT; SUPERNUMERARY CHROMOSOME;

EID: 12244292657     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10916     Document Type: Article
Times cited : (29)

References (19)
  • 2
    • 0034011947 scopus 로고    scopus 로고
    • Mirror-symmetric duplicated chromosome 21q with minor proximal deletion, and with neocentromere in a child without the classical Down syndrome phenotype
    • Barbi G, Kennerknecht I, Wöhr G, Avramopoulos D, Karadima G, Petersen MB. 2000. Mirror-symmetric duplicated chromosome 21q with minor proximal deletion, and with neocentromere in a child without the classical Down syndrome phenotype. Am J Med Genet 91:116-122.
    • (2000) Am J Med Genet , vol.91 , pp. 116-122
    • Barbi, G.1    Kennerknecht, I.2    Wöhr, G.3    Avramopoulos, D.4    Karadima, G.5    Petersen, M.B.6
  • 3
    • 0032728004 scopus 로고    scopus 로고
    • FISH studies in 45 patients with Rubinstein-Taybi syndrome: Deletions associated with polysplenia, hypoplastic left heart and death in infancy
    • Bartsch O, Wagner A, Hinkel GK, Krebs P, Stumm M, Schmalenberger B, Böhm S, Balci S, Majewski F. 1999. FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy. Eur J Hum Genet 7:748-756.
    • (1999) Eur J Hum Genet , vol.7 , pp. 748-756
    • Bartsch, O.1    Wagner, A.2    Hinkel, G.K.3    Krebs, P.4    Stumm, M.5    Schmalenberger, B.6    Böhm, S.7    Balci, S.8    Majewski, F.9
  • 5
    • 0031473740 scopus 로고    scopus 로고
    • Centromere DNA dynamics: Latent centromeres and neocentromere formation
    • Choo A. 1997. Centromere DNA dynamics: latent centromeres and neocentromere formation. Am J Hum Genet 61:1225-1233.
    • (1997) Am J Hum Genet , vol.61 , pp. 1225-1233
    • Choo, A.1
  • 10
    • 0027486644 scopus 로고
    • Dup(1q)(q42-qter) syndrome: Case report and review of literature
    • Kennerknecht I, Barbi G, Rodens K. 1993. Dup(1q)(q42-qter) syndrome: case report and review of literature. Am J Med Genet 47:1157-1160.
    • (1993) Am J Med Genet , vol.47 , pp. 1157-1160
    • Kennerknecht, I.1    Barbi, G.2    Rodens, K.3
  • 11
    • 0020696329 scopus 로고
    • Terminal deletion with stable acentric fragment of 1q in a child with congenital malformations
    • Kucerová M, Polívková Z, Dluholucký S, Kvasnicová M. 1983. Terminal deletion with stable acentric fragment of 1q in a child with congenital malformations. Am J Hum Genet 35:91-95.
    • (1983) Am J Hum Genet , vol.35 , pp. 91-95
    • Kucerová, M.1    Polívková, Z.2    Dluholucký, S.3    Kvasnicová, M.4
  • 12
    • 0034488623 scopus 로고    scopus 로고
    • Prenatal molecular cytogenetic diagnosis of partial tetrasomy 10p due to neocentromere formation in an inversion duplication analphoid marker chromosome
    • Levy B, Papenhausen P, Tepperberg J, Dunn T, Fallet S, Magid M, Kardon N, Jirschhorn K, Warburton P. 2000. Prenatal molecular cytogenetic diagnosis of partial tetrasomy 10p due to neocentromere formation in an inversion duplication analphoid marker chromosome. Cytogenet Cell Genet 91:165-170.
    • (2000) Cytogenet Cell Genet , vol.91 , pp. 165-170
    • Levy, B.1    Papenhausen, P.2    Tepperberg, J.3    Dunn, T.4    Fallet, S.5    Magid, M.6    Kardon, N.7    Jirschhorn, K.8    Warburton, P.9
  • 13
    • 0035051713 scopus 로고    scopus 로고
    • A mitotically stable marker chromosome negative for whole chromosome libraries, centromere probes and chromosome specific telomere regions: A novel class of supernumerary marker chromosome?
    • Mackie Ogilvie C, Harrison RH, Horsley SW, Hodgson SV, Kearney L. 2001. A mitotically stable marker chromosome negative for whole chromosome libraries, centromere probes and chromosome specific telomere regions: a novel class of supernumerary marker chromosome? Cytogenet Cell Genet 92:69-73.
    • (2001) Cytogenet Cell Genet , vol.92 , pp. 69-73
    • Mackie Ogilvie, C.1    Harrison, R.H.2    Horsley, S.W.3    Hodgson, S.V.4    Kearney, L.5
  • 14
    • 0035866029 scopus 로고    scopus 로고
    • Boy with bilateral retinoblastoma due to an unusual ring chromosome 13 with activation of a latent centromere
    • Morrissette JJD, Celle L, Owence NL, Shields CL, Zackai EH, Spinner NB. 2001. Boy with bilateral retinoblastoma due to an unusual ring chromosome 13 with activation of a latent centromere. Am J Med Genet 99:21-28.
    • (2001) Am J Med Genet , vol.99 , pp. 21-28
    • Morrissette, J.J.D.1    Celle, L.2    Owence, N.L.3    Shields, C.L.4    Zackai, E.H.5    Spinner, N.B.6
  • 16
    • 0034726166 scopus 로고    scopus 로고
    • Tetrasomy 15q25→qter: Cytogenetic and molecular characterization of an analphoid supernumerary marker chromosome
    • Rowe AG, Abrams L, Qu Y, Chen E, Cotter PD. 2000. Tetrasomy 15q25→qter: cytogenetic and molecular characterization of an analphoid supernumerary marker chromosome. Am J Med Genet 93:393-398.
    • (2000) Am J Med Genet , vol.93 , pp. 393-398
    • Rowe, A.G.1    Abrams, L.2    Qu, Y.3    Chen, E.4    Cotter, P.D.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.