메뉴 건너뛰기




Volumn 9, Issue 2, 2013, Pages 179-181

Trisomy 18 mosaicism: Report of two cases

Author keywords

horse shoe shaped kidneys; hypertrophic cardiomyopathy; mosaicism; trisomy 18

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHILDHOOD DISEASE; CLINICAL FEATURE; DIAGNOSTIC ERROR; FEEDING DISORDER; FEMALE; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HORSESHOE KIDNEY; HUMAN; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; KARYOTYPING; LEARNING DISORDER; LYMPHOCYTE; MALE; MOSAICISM; OUTCOME ASSESSMENT; PATENT DUCTUS ARTERIOSUS; PHENOTYPE; SCHOOL CHILD; SKIN FIBROBLAST; TRACHEOESOPHAGEAL FISTULA; TRISOMY 18; TRISOMY E1 MOSAICISM;

EID: 84878134797     PISSN: 17088569     EISSN: 18670687     Source Type: Journal    
DOI: 10.1007/s12519-011-0280-x     Document Type: Article
Times cited : (16)

References (8)
  • 2
    • 84878134869 scopus 로고    scopus 로고
    • Trisomy 18 (Edwards) syndrome
    • R.J. Gorlin H.J. Cohen R.C.M. Hennekam (eds) Oxford University Press New York
    • Gorlin RJ, Cohen HJ, Hennekam RCM. Trisomy 18 (Edwards) syndrome. In: Gorlin RJ, Cohen HJ, Hennekam RCM, eds. Syndromes of the Head and Neck. New York: Oxford University Press, 2001:45-48.
    • (2001) Syndromes of the Head and Neck , pp. 45-48
    • Gorlin, R.J.1    Cohen, H.J.2    Hennekam, R.C.M.3
  • 3
    • 33847375052 scopus 로고    scopus 로고
    • Phenotypic spectrum of mosaic trisomy 18: Two new patients, a literature review, and counseling issues
    • 17266111
    • Tucker ME, Garringer HJ, Weaver DD. Phenotypic spectrum of mosaic trisomy 18: two new patients, a literature review, and counseling issues. Am J Med Genet A 2007;143:505-517.
    • (2007) Am J Med Genet A , vol.143 , pp. 505-517
    • Tucker, M.E.1    Garringer, H.J.2    Weaver, D.D.3
  • 4
    • 0013815591 scopus 로고
    • Congenital asymmetry associated with trisomy 18 mosaicism
    • 5846693 1:STN:280:DyaF28%2Fks1yksg%3D%3D
    • Hook EB, Yunis JJ. Congenital asymmetry associated with trisomy 18 mosaicism. Am J Dis Child 1965;110:551-555.
    • (1965) Am J Dis Child , vol.110 , pp. 551-555
    • Hook, E.B.1    Yunis, J.J.2
  • 5
    • 0013832493 scopus 로고
    • Report on trisomies 18 and a trisomy 18 mosaicism
    • 5869747 10.1007/BF00395654 1:STN:280:DyaF2s%2FhtVGjtw%3D%3D
    • Wolf U, Reinwein H, Schroter R. Report on trisomies 18 and a trisomy 18 mosaicism. Humangenetik 1965;1:232-245.
    • (1965) Humangenetik , vol.1 , pp. 232-245
    • Wolf, U.1    Reinwein, H.2    Schroter, R.3
  • 6
    • 0028263226 scopus 로고
    • Trisomy 18 mosaicism in a thirteen-year-old girl with normal intelligence, delayed pubertal development, and growth failure
    • 8160761 10.1002/ajmg.1320500121 1:STN:280:DyaK2c3ht12quw%3D%3D
    • Sarigol SS, Rogers DG. Trisomy 18 mosaicism in a thirteen-year-old girl with normal intelligence, delayed pubertal development, and growth failure. Am J Med Genet 1994;50:94-95.
    • (1994) Am J Med Genet , vol.50 , pp. 94-95
    • Sarigol, S.S.1    Rogers, D.G.2
  • 8
    • 0020456255 scopus 로고
    • Trisomy 18 mosaicism: Clues to the diagnosis
    • 7160104 10.1111/j.1399-0004.1982.tb01848.x 1:STN:280:DyaL3s7jtVSqsQ%3D%3D
    • Bass HN, Fox M, Wulfsberg E, Sparkes RS, Crandall BF. Trisomy 18 mosaicism: clues to the diagnosis. Clin Genet 1982;22:327-330.
    • (1982) Clin Genet , vol.22 , pp. 327-330
    • Bass, H.N.1    Fox, M.2    Wulfsberg, E.3    Sparkes, R.S.4    Crandall, B.F.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.