메뉴 건너뛰기




Volumn 119 A, Issue 1, 2003, Pages 66-70

Long-term survival in a patient with del(18)(q12.2q21.1)

Author keywords

18q deletion; Chromosomal abnormality; Chromosome 18; Mental retardation; Syndrome

Indexed keywords

AGED; ANAMNESIS; ARTICLE; BEHAVIOR DISORDER; CASE REPORT; CHROMOSOME 18Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL EXAMINATION; CLINICAL FEATURE; CRANIOFACIAL MALFORMATION; CYTOGENETICS; FEMALE; HUMAN; HYPERPHAGIA; INTERSTITIAL CHROMOSOME DELETION; KARYOTYPE 46,XX; KARYOTYPING; MENTAL DEFICIENCY; PHENOTYPE; PRIORITY JOURNAL; SURVIVAL RATE;

EID: 0041821369     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10217     Document Type: Article
Times cited : (23)

References (13)
  • 2
    • 0026710963 scopus 로고
    • Recognizable behavioral and somatic phenotype in patients with proximal interstitial 18q deletion: Report on a new affected child and follow-up on the original reported familial cases
    • Chudley AE, Kovnats S, Ray M. 1992. Recognizable behavioral and somatic phenotype in patients with proximal interstitial 18q deletion: Report on a new affected child and follow-up on the original reported familial cases. Am J Med Genet 43:535-538.
    • (1992) Am J Med Genet , vol.43 , pp. 535-538
    • Chudley, A.E.1    Kovnats, S.2    Ray, M.3
  • 6
    • 0026742086 scopus 로고
    • Monosomy 18q12.1-21.1: A recognizable aneuploidy syndrome? Report of a patient and review of the literature
    • Krasikov N, Thompson K, Sekhon GS. 1992. Monosomy 18q12.1-21.1: A recognizable aneuploidy syndrome? Report of a patient and review of the literature. Am J Med Genet 43:531-534.
    • (1992) Am J Med Genet , vol.43 , pp. 531-534
    • Krasikov, N.1    Thompson, K.2    Sekhon, G.S.3
  • 9
    • 0025827836 scopus 로고
    • Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): A report of three cases of an autosomal deletion with a mild phenotype
    • Schinzel A, Binkert F, Lillington DM, Sands M, Stocks RJ, Lindenbaum RH, Matthews H, Sheridan H. 1991. Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): A report of three cases of an autosomal deletion with a mild phenotype. J Med Genet 28:352-355.
    • (1991) J Med Genet , vol.28 , pp. 352-355
    • Schinzel, A.1    Binkert, F.2    Lillington, D.M.3    Sands, M.4    Stocks, R.J.5    Lindenbaum, R.H.6    Matthews, H.7    Sheridan, H.8
  • 10
    • 0026344146 scopus 로고
    • Interstitial deletion of chromosome 18[del(18)(q11.2q12.2 or q12.2q21.1]
    • Surh LC, Ledbetter DH, Greenberg F. 1991. Interstitial deletion of chromosome 18[del(18)(q11.2q12.2 or q12.2q21.1]. Am J Med Genet 41:15-17.
    • (1991) Am J Med Genet , vol.41 , pp. 15-17
    • Surh, L.C.1    Ledbetter, D.H.2    Greenberg, F.3
  • 11
    • 0024489885 scopus 로고
    • Obesity and abnormal behaviour associated with interstitial deletion of chromosome 18 (q12.2q21.1)
    • Wilson GN, Al Saadi AA. 1989. Obesity and abnormal behaviour associated with interstitial deletion of chromosome 18 (q12.2q21.1). J Med Genet 26:62-63.
    • (1989) J Med Genet , vol.26 , pp. 62-63
    • Wilson, G.N.1    Al Saadi, A.A.2
  • 12
    • 0023687315 scopus 로고
    • Prenatal diagnosis of mosaicism for del(18) (q12.2q21.1) and a normal cell line
    • Wilson MG, Lin MS. 1988. Prenatal diagnosis of mosaicism for del(18) (q12.2q21.1) and a normal cell line. J Med Genet 25:635-636.
    • (1988) J Med Genet , vol.25 , pp. 635-636
    • Wilson, M.G.1    Lin, M.S.2
  • 13
    • 0018630218 scopus 로고
    • Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]
    • Wilson MG, Towner JW, Forsman I, Siris E. 1979. Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]. Am J Med Genet 3:155-174.
    • (1979) Am J Med Genet , vol.3 , pp. 155-174
    • Wilson, M.G.1    Towner, J.W.2    Forsman, I.3    Siris, E.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.