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Volumn 117 A, Issue 1, 2003, Pages 76-79

De novo interstitial tandem duplication of chromosome 20p12.1p13

Author keywords

Duplication chromosome 20p; Interstitial duplication; Tandem duplication

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 20P; CHROMOSOME DUPLICATION; CHROMOSOME STRUCTURE; CLINICAL FEATURE; CLINICAL GENETICS; FEMALE; HUMAN; MOLECULAR GENETICS; NEWBORN; PATHOGENESIS; PRIORITY JOURNAL; CHROMOSOME 20; CHROMOSOME ABERRATION; CHROMOSOME BANDING PATTERN; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DUPLICATION; GENETICS; KARYOTYPING; PRESCHOOL CHILD;

EID: 0038412584     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10825     Document Type: Article
Times cited : (5)

References (15)
  • 4
    • 0026692754 scopus 로고
    • 20p duplication as a result of parental translocation: Familial case report and a contribution to the clinical delineation of the syndrome
    • Grammatico P, Cupilari F, Di Rosa C, Falcolini M, Del Porto G. 1992. 20p duplication as a result of parental translocation: familial case report and a contribution to the clinical delineation of the syndrome. Clin Genet 41:285-289.
    • (1992) Clin Genet , vol.41 , pp. 285-289
    • Grammatico, P.1    Cupilari, F.2    Di Rosa, C.3    Falcolini, M.4    Del Porto, G.5
  • 5
    • 0034028921 scopus 로고    scopus 로고
    • Structure of chromosomal duplicons and their role in mediating human genomic disorders
    • Ji Y, Eichler EE, Schwartz S, Nicholls RD. 2000. Structure of chromosomal duplicons and their role in mediating human genomic disorders. Genome Res 10:597-610.
    • (2000) Genome Res , vol.10 , pp. 597-610
    • Ji, Y.1    Eichler, E.E.2    Schwartz, S.3    Nicholls, R.D.4
  • 6
    • 0028212834 scopus 로고
    • Duplication 20p identified via fluorescent in situ hybridization
    • LeChien KA, McPherson E, Estop AM. 1994. Duplication 20p identified via fluorescent in situ hybridization. Am J Med Genet 50:187-189.
    • (1994) Am J Med Genet , vol.50 , pp. 187-189
    • LeChien, K.A.1    McPherson, E.2    Estop, A.M.3
  • 7
    • 0031731487 scopus 로고    scopus 로고
    • Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
    • Lupski JR. 1998. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 14:417-422.
    • (1998) Trends Genet , vol.14 , pp. 417-422
    • Lupski, J.R.1
  • 15
    • 0020838419 scopus 로고
    • A partial duplication of the short arm of chromosome 20
    • Wuu SW, Hwang B, Wuu K-D. 1983. A partial duplication of the short arm of chromosome 20. J Formos Med Assoc 82:1088-1092.
    • (1983) J Formos Med Assoc , vol.82 , pp. 1088-1092
    • Wuu, S.W.1    Hwang, B.2    Wuu, K.-D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.