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Volumn 126 A, Issue 4, 2004, Pages 423-426

Familial Interstitial Duplication of 11q; Partial Trisomy (11)(q13.5q21)

Author keywords

Developmental delay; Duplication 11q; Fluorescence in situ hybridization; Partial trisomy

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 11; CHROMOSOME 11Q; CHROMOSOME 13Q; CHROMOSOME 22Q; CHROMOSOME DUPLICATION; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DISEASE COURSE; FAMILIAL DISEASE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE TRANSLOCATION; HUMAN; HUMAN CELL; MALE; MEDICAL LITERATURE; MONOSOMY; MOTHER; NEWBORN; PARENT; PARTIAL TRISOMY; PARTIAL TRISOMY 11Q; PHENOTYPE; PRIORITY JOURNAL; TRISOMY; TRISOMY 22;

EID: 2142755292     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20610     Document Type: Article
Times cited : (27)

References (6)
  • 1
    • 0033361899 scopus 로고    scopus 로고
    • A chromosomal duplication map of malformations: Regions of suspected haplo-and triplolethality-and tolerance of segmental aneuploidy-in humans
    • Brewer C, Holloway S, Zawalnyski P, Schinzel A, FitzPatrick D. 1999. A chromosomal duplication map of malformations: Regions of suspected haplo-and triplolethality-and tolerance of segmental aneuploidy-in humans. Am J Hum Genet 64:1702-1708.
    • (1999) Am J Hum Genet , vol.64 , pp. 1702-1708
    • Brewer, C.1    Holloway, S.2    Zawalnyski, P.3    Schinzel, A.4    FitzPatrick, D.5
  • 3
    • 0034571403 scopus 로고    scopus 로고
    • Disease genes and chromosomes: Disease maps of the human genome
    • Gilbert F. 2000. Disease genes and chromosomes: Disease maps of the human genome. Genet Test 4:409-426.
    • (2000) Genet Test , vol.4 , pp. 409-426
    • Gilbert, F.1
  • 4
    • 0029989053 scopus 로고    scopus 로고
    • De novo 46,XX,dir dup(11)(q13.3→ q14.2) in a patient with mental retardation, congenital cardiomyopathy, and thrombopenia
    • Legius E, Wlodarska I, Selleri L, Evans GA, Wu R, Smet G, Fryns JP. 1996. De novo 46,XX,dir dup(11)(q13.3→ q14.2) in a patient with mental retardation, congenital cardiomyopathy, 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
  • 5
    • 0027141006 scopus 로고
    • Tandem duplication 11q23-qter in the dysmorphic child of a retarded mother mosaic for the same anomaly with no apparent abnormalities
    • Pfeiffer RA, Schutz Chr. 1993. Tandem duplication 11q23-qter 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, Chr.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.