메뉴 건너뛰기




Volumn 68, Issue 1, 1997, Pages 50-53

Mosaic partial trisomy 17 due to a ring chromosome identified by fluorescence in situ hybridisation

Author keywords

FISH; mosaic partial trisomy 17; ring chromosome 17

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 17; CHROMOSOME G BAND; DEVELOPMENTAL DISORDER; FACE MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; JOINT LAXITY; PARTIAL TRISOMY; PRESCHOOL CHILD; PRIORITY JOURNAL; RING CHROMOSOME; SCOLIOSIS; SMITH MAGENIS SYNDROME;

EID: 0031012229     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970110)68:1<50::AID-AJMG9>3.0.CO;2-1     Document Type: Article
Times cited : (12)

References (8)
  • 1
    • 0027231522 scopus 로고
    • Probable de novo 17q duplication (q11.2 → q21.1): A newly recognised chromosomal syndrome in a child with Klinefelter's syndrome
    • Butt AM, Mehta D, Goodeve JA, Flinter FA (1993): Probable de novo 17q duplication (q11.2 → q21.1): A newly recognised chromosomal syndrome in a child with Klinefelter's syndrome. J Med Genet 30: 436-437.
    • (1993) J Med Genet , vol.30 , pp. 436-437
    • Butt, A.M.1    Mehta, D.2    Goodeve, J.A.3    Flinter, F.A.4
  • 6
    • 0026699272 scopus 로고
    • Ring chromosome 17: Case report and review of the literature
    • Teyssier M, Charrin C, Corgiolu Theuil G, David L (1992): Ring chromosome 17: Case report and review of the literature. Ann Genet 35:75-78.
    • (1992) Ann Genet , vol.35 , pp. 75-78
    • Teyssier, M.1    Charrin, C.2    Corgiolu Theuil, G.3    David, L.4
  • 8
    • 0027506860 scopus 로고
    • Characterisation of a de novo 48,XX,+r(X), +r(17) by in situ hybridisation in a patient with neurofibromatosis (NF1)
    • Wiktor A, Van Dyke DL, Weiss L (1992): Characterisation of a de novo 48,XX,+r(X), +r(17) by in situ hybridisation in a patient with neurofibromatosis (NF1). Am J Med Genet 45:22-24.
    • (1992) Am J Med Genet , vol.45 , pp. 22-24
    • Wiktor, A.1    Van Dyke, D.L.2    Weiss, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.