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Volumn 134 A, Issue 2, 2005, Pages 229-230

De novo duplication of the short arm of chromosome 12: dup(12)(p13.1p13.3) [3]

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHILD BEHAVIOR; CHROMOSOME 12; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CLINICAL FEATURE; CYTOGENETICS; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; GENOTYPE; HEARING; HUMAN; HUMAN CELL; LETTER; LYMPHOCYTE; MALE; MUSCLE HYPOTONIA; PHENOTYPE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; TRISOMY;

EID: 15944391295     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30555     Document Type: Letter
Times cited : (10)

References (14)
  • 3
    • 0029967022 scopus 로고    scopus 로고
    • Pallister-Killian syndrome: A mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype
    • Bielanska MM, Khalifa MM, Duncan AM. 1996. Pallister-Killian syndrome: A mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype. Am J Med Genet 65:104-108.
    • (1996) Am J Med Genet , vol.65 , pp. 104-108
    • Bielanska, M.M.1    Khalifa, M.M.2    Duncan, A.M.3
  • 4
    • 0027365064 scopus 로고
    • Characterization of de novo duplications in eight patients by using fluorescence in situ hybridization with chromosome-specific DNA libraries
    • Leana-Cox J, Levin S, Surana R, Wulfsberg E, Keene CL, Raffel LJ, Sullivan B, Schwartz S. 1993. Characterization of de novo duplications in eight patients by using fluorescence in situ hybridization with chromosome-specific DNA libraries. Am J Hum Genet 52:1067-1073.
    • (1993) Am J Hum Genet , vol.52 , pp. 1067-1073
    • Leana-Cox, J.1    Levin, S.2    Surana, R.3    Wulfsberg, E.4    Keene, C.L.5    Raffel, L.J.6    Sullivan, B.7    Schwartz, S.8
  • 5
    • 0018734368 scopus 로고
    • Two cases of trisomy 12p due to rcpt (12;21)(p11;p11) inherited through three generations
    • Parslow M, Chambers D, Drummond M, Hunter W. 1979. Two cases of trisomy 12p due to rcpt (12;21)(p11;p11) inherited through three generations. Hum Genet 47:253-260.
    • (1979) Hum Genet , vol.47 , pp. 253-260
    • Parslow, M.1    Chambers, D.2    Drummond, M.3    Hunter, W.4
  • 6
    • 0026534950 scopus 로고
    • Acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11.2-p13.3
    • Pfeiffer RA, Legat G, Trautmann U. 1992. Acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11.2-p13.3. Ann Genet 35:41-46.
    • (1992) Ann Genet , vol.35 , pp. 41-46
    • Pfeiffer, R.A.1    Legat, G.2    Trautmann, U.3
  • 8
    • 0029931942 scopus 로고    scopus 로고
    • Clinical and molecular cytogenetic observations in three cases of "trisomy 12p syndrome"
    • Rauch A, Trautmann U, Pfeiffer RA. 1996. Clinical and molecular cytogenetic observations in three cases of "trisomy 12p syndrome". Am J Med Genet 63:243-249.
    • (1996) Am J Med Genet , vol.63 , pp. 243-249
    • Rauch, A.1    Trautmann, U.2    Pfeiffer, R.A.3
  • 12
    • 0035889285 scopus 로고    scopus 로고
    • De novo inverted tandem duplication of the short arm of chromosome 12 in a patient with microblepharon
    • Tekin M, Jackson-Cook C, Pandya A. 2001. De novo inverted tandem duplication of the short arm of chromosome 12 in a patient with microblepharon. Am J Med Genet 104:42-46.
    • (2001) Am J Med Genet , vol.104 , pp. 42-46
    • Tekin, M.1    Jackson-Cook, C.2    Pandya, A.3
  • 13
    • 0015579613 scopus 로고
    • Identification of partial 12 trisomy by quinacrine fluorescence
    • Uchida IA, Lin CC. 1973. Identification of partial 12 trisomy by quinacrine fluorescence. J Pediatr 82:269-272.
    • (1973) J Pediatr , vol.82 , pp. 269-272
    • Uchida, I.A.1    Lin, C.C.2
  • 14
    • 0028073157 scopus 로고
    • Patient with de novo 12p+ syndrome identified as dir dup(12)(p13) using subchromosomal painting libraries from somatic cell hybrids
    • Zelante L, Calvano S, Dallapiccola B, Mingarelli R, Antonacci R, Chiovato L, Rocchi M. 1994. Patient with de novo 12p+ syndrome identified as dir dup(12)(p13) using subchromosomal painting libraries from somatic cell hybrids. Clin Genet 46:368-371.
    • (1994) Clin Genet , vol.46 , pp. 368-371
    • Zelante, L.1    Calvano, S.2    Dallapiccola, B.3    Mingarelli, R.4    Antonacci, R.5    Chiovato, L.6    Rocchi, M.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.