메뉴 건너뛰기




Volumn 80, Issue 3, 2006, Pages 262-266

Duplication of 11p14.3-p15.1 in a mentally retarded proband and his mother detected by G-banding and confirmed by high-resolution CGH and BAC FISH

Author keywords

11p14.3 p15.1; BAC FISH; CGH; Chromosome 11; Comparative genomic hybridization; dup(11p); Duplication; FISH; Fluorescent in situ hybridization; HR CGH; Mental retardation

Indexed keywords

AFRICAN AMERICAN; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; BECKWITH WIEDEMANN SYNDROME; CASE REPORT; CHROMOSOME 11; CHROMOSOME DUPLICATION; CHROMOSOME PAINTING; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; DIVERGENT STRABISMUS; EUCHROMATIN; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; IMPULSIVENESS; INFANTILE HYPOTONIA; INGUINAL HERNIA; MALE; MENTAL DEFICIENCY; SCHOOL CHILD;

EID: 33646507687     PISSN: 00144800     EISSN: 10960945     Source Type: Journal    
DOI: 10.1016/j.yexmp.2005.12.008     Document Type: Article
Times cited : (7)

References (8)
  • 1
    • 0036765999 scopus 로고    scopus 로고
    • Duplications of 11p15 of maternal origin result in a phenotype that includes growth retardation
    • Fisher A.M., Thomas N.S., Cockwell A., Stecko O., Kerr B., Temple I.K., and Clayton P. Duplications of 11p15 of maternal origin result in a phenotype that includes growth retardation. Hum. Genet. 111 (2002) 290-296
    • (2002) Hum. Genet. , vol.111 , pp. 290-296
    • Fisher, A.M.1    Thomas, N.S.2    Cockwell, A.3    Stecko, O.4    Kerr, B.5    Temple, I.K.6    Clayton, P.7
  • 2
    • 0032032471 scopus 로고    scopus 로고
    • Detection of chromosomal gains and losses in comparative genomic hybridization analysis based on standard reference intervals
    • Kirchhoff M., Gerdes T., Maahr J., et al. Detection of chromosomal gains and losses in comparative genomic hybridization analysis based on standard reference intervals. Cytometry 31 (1998) 163-173
    • (1998) Cytometry , vol.31 , pp. 163-173
    • Kirchhoff, M.1    Gerdes, T.2    Maahr, J.3
  • 3
    • 0034754559 scopus 로고    scopus 로고
    • High resolution comparative genomic hybridization in clinical cytogenetics
    • Kirchhoff M., Rose H., and Lundsteen C. High resolution comparative genomic hybridization in clinical cytogenetics. J. Med. Genet. 38 (2001) 740-744
    • (2001) J. Med. Genet. , vol.38 , pp. 740-744
    • Kirchhoff, M.1    Rose, H.2    Lundsteen, C.3
  • 4
    • 0032475940 scopus 로고    scopus 로고
    • Molecular genetics of Wiedemann-Beckwith syndrome
    • Li M., Squire J.A., and Weksberg G. Molecular genetics of Wiedemann-Beckwith syndrome. Am. J. Med. Genet. 79 (1998) 253-259
    • (1998) Am. J. Med. Genet. , vol.79 , pp. 253-259
    • Li, M.1    Squire, J.A.2    Weksberg, G.3
  • 6
    • 3242704306 scopus 로고    scopus 로고
    • Molecular characterization of multiple intrachromosomal rearrangements of 2q in a patient with Waardenburg's syndrome and other congenital defects
    • Shim S.H., Wyandt H.E., McDonald-McGinn D.M., Zackai E.Z., and Milunsky A. Molecular characterization of multiple intrachromosomal rearrangements of 2q in a patient with Waardenburg's syndrome and other congenital defects. Clin. Genet. 66 (2004) 46-52
    • (2004) Clin. Genet. , vol.66 , pp. 46-52
    • Shim, S.H.1    Wyandt, H.E.2    McDonald-McGinn, D.M.3    Zackai, E.Z.4    Milunsky, A.5
  • 7
    • 0025845810 scopus 로고
    • Characterization of a de novo duplication of 11p14-p13, using fluorescent in situ hybridization and southern hybridization
    • Speleman F., Mannens M., Redeker R., Vercruyssen M., Van Oostveldt P., Leroy J., and Slater R. Characterization of a de novo duplication of 11p14-p13, using fluorescent in situ hybridization and southern hybridization. Cytogenet. Cell Genet. 56 (1991) 129-131
    • (1991) Cytogenet. Cell Genet. , vol.56 , pp. 129-131
    • Speleman, F.1    Mannens, M.2    Redeker, R.3    Vercruyssen, M.4    Van Oostveldt, P.5    Leroy, J.6    Slater, R.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.