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Volumn 73, Issue 3, 1997, Pages 330-333

Complex congenital heart malformations in mosaic tetrasomy 8p: Case report and review of the literature

Author keywords

Congenital heart malformations; Mosaic tetrasomy 8p; Trisomy 8

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CONGENITAL HEART MALFORMATION; FIBROBLAST; HEART VENTRICLE SEPTUM DEFECT; HUMAN; MALE; MOSAICISM; NEWBORN; PATENT DUCTUS ARTERIOSUS; PRIORITY JOURNAL; TETRASOMY;

EID: 0030723730     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19971219)73:3<330::AID-AJMG19>3.0.CO;2-K     Document Type: Article
Times cited : (12)

References (18)
  • 1
    • 0028297940 scopus 로고
    • Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8
    • Barber JCK, James RS, Patch C, Temple IK (1994): Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8. Am J Med Genet 50:296-299.
    • (1994) Am J Med Genet , vol.50 , pp. 296-299
    • Barber, J.C.K.1    James, R.S.2    Patch, C.3    Temple, I.K.4
  • 3
    • 0027976244 scopus 로고
    • Direct transmission of a tandem duplication in the short arm of chromosome 8
    • Dhooge C, Van Roy N, Craen M, Speleman F (1994): Direct transmission of a tandem duplication in the short arm of chromosome 8. Clin Genet 45:36-39.
    • (1994) Clin Genet , vol.45 , pp. 36-39
    • Dhooge, C.1    Van Roy, N.2    Craen, M.3    Speleman, F.4
  • 5
    • 0027250654 scopus 로고
    • Mosaic tetrasomy 8p: Molecular cytogenetic confirmation and measurement of glutathione reductase and tissue plasminogen activator levels
    • Fisher AM, Barber JCK, Crolla JA, James RS, Lestas NA, Jennings I, Dennis NR (1993): Mosaic tetrasomy 8p: Molecular cytogenetic confirmation and measurement of glutathione reductase and tissue plasminogen activator levels. Am J Med Genet 47:100-105.
    • (1993) Am J Med Genet , vol.47 , pp. 100-105
    • Fisher, A.M.1    Barber, J.C.K.2    Crolla, J.A.3    James, R.S.4    Lestas, N.A.5    Jennings, I.6    Dennis, N.R.7
  • 6
    • 0025826771 scopus 로고
    • San Luis Valley recombinant chromosome 8 and tetralogy of Fallot: A review of chromosome 8 anomalies and congenital heart disease
    • Gelb BD, Towbin JA, McCabe ER, Sujansky E (1991): San Luis Valley recombinant chromosome 8 and tetralogy of Fallot: A review of chromosome 8 anomalies and congenital heart disease. Am J Med Genet 40:471-476.
    • (1991) Am J Med Genet , vol.40 , pp. 471-476
    • Gelb, B.D.1    Towbin, J.A.2    McCabe, E.R.3    Sujansky, E.4
  • 7
    • 0023786330 scopus 로고
    • Four copies of 8p in a mentally retarded boy with the mosaic karyotype 47,XY,+i(8p)/ 46,XY
    • Kristoffersson U, Lagergren J, Heim S, Mandahl N (1988): Four copies of 8p in a mentally retarded boy with the mosaic karyotype 47,XY,+i(8p)/ 46,XY. Clin Genet 34:201-203.
    • (1988) Clin Genet , vol.34 , pp. 201-203
    • Kristoffersson, U.1    Lagergren, J.2    Heim, S.3    Mandahl, N.4
  • 13
    • 0025062739 scopus 로고
    • Congenital cardiovascular malformations (CCVM) and structural chromosome abnormalities: A report of 9 cases and literature review
    • Roskes EJ, Boughman JA, Schwartz S, Cohen MM (1990): Congenital cardiovascular malformations (CCVM) and structural chromosome abnormalities: A report of 9 cases and literature review. Clin Genet 38:198-210.
    • (1990) Clin Genet , vol.38 , pp. 198-210
    • Roskes, E.J.1    Boughman, J.A.2    Schwartz, S.3    Cohen, M.M.4
  • 18
    • 0028829609 scopus 로고
    • Mosaic "tetrasomy" 8p: Case report and review of the literature
    • Winters J, Markello T, Nance W, Jackson-Cook C (1995): Mosaic "tetrasomy" 8p: Case report and review of the literature. Clin Genet 48:195-198.
    • (1995) Clin Genet , vol.48 , pp. 195-198
    • Winters, J.1    Markello, T.2    Nance, W.3    Jackson-Cook, C.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.