메뉴 건너뛰기




Volumn 84, Issue 2, 1999, Pages 116-119

De Novo deletion 12q: Report of a patient with 12q24.31q24.33 deletion

Author keywords

Ambiguous genitalia; Chromosome 12; Chromosome deletion; Long arm; Tracheomalacia

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 12Q; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; GENITAL MALFORMATION; HUMAN; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; TRACHEOMALACIA;

EID: 0032902282     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990521)84:2<116::AID-AJMG6>3.0.CO;2-3     Document Type: Article
Times cited : (36)

References (13)
  • 2
    • 0028476093 scopus 로고
    • A case of hypogonadism with a translocation t(4;12)(q25;q24.2)
    • Elbistan M, Aydin M, Bagci H, Kara N. 1994. A case of hypogonadism with a translocation t(4;12)(q25;q24.2). Ind J Pediatr 6:421-426.
    • (1994) Ind J Pediatr , vol.6 , pp. 421-426
    • Elbistan, M.1    Aydin, M.2    Bagci, H.3    Kara, N.4
  • 3
    • 0042552513 scopus 로고
    • Chromosome banding techniques in clinical cytogenetics: Report of four cases irresolvable by conventional methods
    • Hamerton LJ, Ray M, Douglas GR. 1973. Chromosome banding techniques in clinical cytogenetics: report of four cases irresolvable by conventional methods. Chromosome identification, Nobel Symposium 23:209-213.
    • (1973) Chromosome Identification, Nobel Symposium , vol.23 , pp. 209-213
    • Hamerton, L.J.1    Ray, M.2    Douglas, G.R.3
  • 7
    • 0023128108 scopus 로고
    • Multiple malformation syndrome including cleft lip and palate and cardiac abnormalities due to an interstitial deletion of chromosome 12q
    • Meinecke P, Meinecke R. 1987. Multiple malformation syndrome including cleft lip and palate and cardiac abnormalities due to an interstitial deletion of chromosome 12q. J Med Genet 24:187.
    • (1987) J Med Genet , vol.24 , pp. 187
    • Meinecke, P.1    Meinecke, R.2
  • 8
    • 0029879726 scopus 로고    scopus 로고
    • "Pure" partial trisomy 4q25-qter owing to a de nove 4;22 translocation
    • Milkesar RV, Lurie IW, Ilus TE. 1996. "Pure" partial trisomy 4q25-qter owing to a de nove 4;22 translocation. J Med Genet 33:344-345.
    • (1996) J Med Genet , vol.33 , pp. 344-345
    • Milkesar, R.V.1    Lurie, I.W.2    Ilus, T.E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.