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Volumn 149, Issue 7, 2009, Pages 1516-1522

Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication

Author keywords

11q duplication; Array comparative genomic hybridization; MLL gene; Recombinant chromosome; Triplication

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME DUPLICATION; CHROMOSOME HIGH RESOLUTION BANDING ANALYSIS; CHROMOSOME INSERTION; CHROMOSOME ISOLATION; CHROMOSOME REARRANGEMENT; CHROMOSOME TRIPLICATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; CYTOGENETICS; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC DISORDER; GENETIC TRAIT; GENOMICS; HEPATOMEGALY; HUMAN; JACOBSEN SYNDROME; KARYOTYPE; MALE; MICROARRAY ANALYSIS; MOLECULAR GENETICS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RECOMBINANT GENE; SPEECH DISORDER;

EID: 67649883476     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32906     Document Type: Article
Times cited : (16)

References (23)
  • 1
    • 0034532070 scopus 로고    scopus 로고
    • Tandem triplication of chromosome 13q14 with inverted interstitial segment in a 4 year old girl
    • Brecevic L, Basaran S, Dutly F, Rothlisberger B, Schinzel A. 2000. Tandem triplication of chromosome 13q14 with inverted interstitial segment in a 4 year old girl. J Med Genet 37:964-967.
    • (2000) J Med Genet , vol.37 , pp. 964-967
    • Brecevic, L.1    Basaran, S.2    Dutly, F.3    Rothlisberger, B.4    Schinzel, A.5
  • 2
    • 0030566390 scopus 로고    scopus 로고
    • 11Q duplication in a patient with Pitt-Rogers-Danks phenotype
    • de Die-Smulders CE, Engelen JJ. 1996. 11Q duplication in a patient with Pitt-Rogers-Danks phenotype. Am J Med Genet 66:116-117.
    • (1996) Am J Med Genet , vol.66 , pp. 116-117
    • De Die-Smulders, C.E.1    Engelen, J.J.2
  • 3
    • 0031785614 scopus 로고    scopus 로고
    • Identification and molecular characterization of a small 11q23.3 de novo duplication in a patient with Rett syndrome manifestations
    • Delobel B, Delannoy V, Pini G, Zapella M, Tardieu M, Vallee L, Croquette MF. 1998. Identification and molecular characterization of a small 11q23.3 de novo duplication in a patient with Rett syndrome manifestations. Am J Med Genet 80:273-280.
    • (1998) Am J Med Genet , vol.80 , pp. 273-280
    • Delobel, B.1    Delannoy, V.2    Pini, G.3    Zapella, M.4    Tardieu, M.5    Vallee, L.6    Croquette, M.F.7
  • 4
    • 0037089541 scopus 로고    scopus 로고
    • MLL amplification in myeloid malignancies: Clinical, molecular, and cytogenetic findings
    • Dolan M, McGlennen RC, Hirsch B. 2002. MLL amplification in myeloid malignancies: clinical, molecular, and cytogenetic findings. Cancer Genet Cytogenet 134:93-101.
    • (2002) Cancer Genet Cytogenet , vol.134 , pp. 93-101
    • Dolan, M.1    McGlennen, R.C.2    Hirsch, B.3
  • 5
    • 33744781590 scopus 로고    scopus 로고
    • Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial tetrasomy. 12p
    • Eckel H, Wimmer R, Volleth M, Jakubiczka S, Muschke P, Wieacker P. 2006. Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial tetrasomy. 12p. Am J Med Genet 140:1219-1222.
    • (2006) Am J Med Genet , vol.140 , pp. 1219-1222
    • Eckel, H.1    Wimmer, R.2    Volleth, M.3    Jakubiczka, S.4    Muschke, P.5    Wieacker, P.6
  • 7
    • 34347324101 scopus 로고    scopus 로고
    • 17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome
    • Girirajan S, Williams SR, Garbern JY, Nowak N, Hatchwell E, Elsea SH. 2007. 17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome. Clin Genet 72:47-58.
    • (2007) Clin Genet , vol.72 , pp. 47-58
    • Girirajan, S.1    Williams, S.R.2    Garbern, J.Y.3    Nowak, N.4    Hatchwell, E.5    Elsea, S.H.6
  • 9
    • 0029989053 scopus 로고    scopus 로고
    • De novo 46,XX, dir dup (11)(q133.3->q14.2) in a patient with mental retardation, congenital cardiopathy and thrombopenia
    • Legius E, Wlodarska I, Selleri L, Evans GA, Wu R, Smet G, Fryns JP. 1996. De novo 46,XX, dir dup (11)(q133.3->q14.2) in a patient with mental retardation, congenital cardiopathy and thrombopenia. Clin Genet 49:206-210.
    • (1996) Clin Genet , vol.49 , pp. 206-210
    • Legius, E.1    Wlodarska, I.2    Selleri, L.3    Evans, G.A.4    Wu, R.5    Smet, G.6    Fryns, J.P.7
  • 10
    • 0032324224 scopus 로고    scopus 로고
    • A boy with intrachromosomal triplication of the X chromosome
    • Matsuki S, Sasagawa I, Kakizaki H, Itoh K, Nakada T. 1998. A boy with intrachromosomal triplication of the X chromosome. J Urol 160: 1490-1491.
    • (1998) J Urol , vol.160 , pp. 1490-1491
    • Matsuki, S.1    Sasagawa, I.2    Kakizaki, H.3    Itoh, K.4    Nakada, T.5
  • 14
    • 0027141006 scopus 로고
    • Tandem duplication 11q23-ter in the dysmorphic child of a retarded mother mosaic for the same anomaly with no apparent abnormalities
    • Pfeiffer RA, Schutz C. 1993. Tandem duplication 11q23-ter in the dysmorphic child of a retarded mother mosaic for the same anomaly with no apparent abnormalities. Ann Genet 36:163-166.
    • (1993) Ann Genet , vol.36 , pp. 163-166
    • Pfeiffer, R.A.1    Schutz, C.2
  • 16
    • 30144445771 scopus 로고    scopus 로고
    • Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome
    • Shieh JT, Hudgins L, Cherry AM, Shen Z, Hoyme HE. 2006. Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome. Am J Med Genet A 140:170-173.
    • (2006) Am J Med Genet A , vol.140 , pp. 170-173
    • Shieh, J.T.1    Hudgins, L.2    Cherry, A.M.3    Shen, Z.4    Hoyme, H.E.5
  • 19
    • 2142755292 scopus 로고    scopus 로고
    • Familial interstitial duplication of 11q; partial trisomy (11)(q13.5q21)
    • Yelavarthi KK, Zunich J. 2004. Familial interstitial duplication of 11q; partial trisomy (11)(q13.5q21). Am J Med Genet A 126:423-426.
    • (2004) Am J Med Genet A , vol.126 , pp. 423-426
    • Yelavarthi, K.K.1    Zunich, J.2
  • 21
    • 0019135082 scopus 로고
    • Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction
    • Zackai EH, Emanuel BS. 1980. Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction. Am J Med Genet 7:507-521.
    • (1980) Am J Med Genet , vol.7 , pp. 507-521
    • Zackai, E.H.1    Emanuel, B.S.2
  • 22
    • 33846811555 scopus 로고    scopus 로고
    • A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature
    • Zarate YA, Kogan JM, Schorry EK, Smolarek TA, Hopkin RJ. 2007. A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature. Am J Med Genet A 143:265-270.
    • (2007) Am J Med Genet A , vol.143 , pp. 265-270
    • Zarate, Y.A.1    Kogan, J.M.2    Schorry, E.K.3    Smolarek, T.A.4    Hopkin, R.J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.