메뉴 건너뛰기




Volumn 50, Issue 3, 2008, Pages 287-290

Pseudo-trisomy 13 in a fetus: Further support for autosomal recessive inheritance

Author keywords

Holoprosencephaly; Polydactyly; Pseudo trisomy 13; Trisomy 13

Indexed keywords

ARTICLE; AUTOPSY; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CLEFT LIP; CONSANGUINITY; FACE DYSMORPHIA; FETUS; FETUS MALFORMATION; GENE MAPPING; HOLOPROSENCEPHALY; HUMAN; HYDROCEPHALUS; HYPOTELORISM; KARYOTYPE 46,XY; LOW SET EAR; PES EQUINOVARUS; PHENOTYPE; POLYDACTYLY; PREGNANCY TERMINATION; TRISOMY 13;

EID: 54749085041     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (4)

References (16)
  • 1
    • 0029838858 scopus 로고    scopus 로고
    • Holoprosencephaly: Epidemiologic and clinical characteristics of a California population
    • Croen LA, Shaw GM, Lammer EJ. Holoprosencephaly: epidemiologic and clinical characteristics of a California population. Am J Med Genet 1996; 64: 465-472.
    • (1996) Am J Med Genet , vol.64 , pp. 465-472
    • Croen, L.A.1    Shaw, G.M.2    Lammer, E.J.3
  • 2
    • 0023145669 scopus 로고
    • Reliable criteria for prenatal sonographic diagnosis of alobar holoprosencephaly
    • Greene MF, Benacerraf BR, Frigoletto FD. Reliable criteria for prenatal sonographic diagnosis of alobar holoprosencephaly. Am J Obstet Gyn 1987; 156: 687-689.
    • (1987) Am J Obstet Gyn , vol.156 , pp. 687-689
    • Greene, M.F.1    Benacerraf, B.R.2    Frigoletto, F.D.3
  • 3
    • 0034008972 scopus 로고    scopus 로고
    • Genetic approaches to understanding brain development: Holoprosencephaly as a model
    • Muenke M, Cohen MC. Genetic approaches to understanding brain development: Holoprosencephaly as a model. MRDD Research Reviews 2000; 6: 15-21.
    • (2000) MRDD Research Reviews , vol.6 , pp. 15-21
    • Muenke, M.1    Cohen, M.C.2
  • 4
    • 0033950129 scopus 로고    scopus 로고
    • Risk factors for cytogenetically normal holoprosencephaly in California: A population-based case-control study
    • Croen LA, Shaw GM, Lammer EJ. Risk factors for cytogenetically normal holoprosencephaly in California: a population-based case-control study. Am J Med Genet 2000; 90: 320-325.
    • (2000) Am J Med Genet , vol.90 , pp. 320-325
    • Croen, L.A.1    Shaw, G.M.2    Lammer, E.J.3
  • 5
    • 0033960670 scopus 로고    scopus 로고
    • Holoprosencephaly: Molecular study of a California population
    • Nanni L, Croen LA, Lammer EJ, Muenke M. Holoprosencephaly: molecular study of a California population. Am J Med Genet 2000; 90: 315-319.
    • (2000) Am J Med Genet , vol.90 , pp. 315-319
    • Nanni, L.1    Croen, L.A.2    Lammer, E.J.3    Muenke, M.4
  • 7
    • 0023616331 scopus 로고
    • Unknown syndrome: Holoprosencephaly, congenital heart defects and polydactyly
    • Young ID, Madders DJ. Unknown syndrome: holoprosencephaly, congenital heart defects and polydactyly. J Med Genet 1987; 24: 714-716.
    • (1987) J Med Genet , vol.24 , pp. 714-716
    • Young, I.D.1    Madders, D.J.2
  • 8
    • 3242732679 scopus 로고    scopus 로고
    • Down syndrome and other autosomal trisomies
    • Rimoin DL, Connor JM, Pyeritz RE, Korf BR (eds, 4th ed) China: Churchill Livingstone
    • Tolmie JL. Down syndrome and other autosomal trisomies. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR (eds). Principles and Practice of Medical Genetics (4th ed) Vol 1. China: Churchill Livingstone, 2002: 1129-1183.
    • (2002) Principles and Practice of Medical Genetics , vol.1 , pp. 1129-1183
    • Tolmie, J.L.1
  • 9
    • 0025777771 scopus 로고
    • Holoprosencephaly-polydactyly ('pseudotrisomy 13′) syndrome: A syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes: a collaborative multicentre study
    • Verloes A, Ayme S, Gambarelli D, et al. Holoprosencephaly-polydactyly ('pseudotrisomy 13′) syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes: a collaborative multicentre study. J Med Genet 1991; 28: 297-303.
    • (1991) J Med Genet , vol.28 , pp. 297-303
    • Verloes, A.1    Ayme, S.2    Gambarelli, D.3
  • 10
    • 0027521570 scopus 로고
    • Pseudotrisomy 13 and autosomal recessive holoprosencephaly
    • Seller MJ, Chitty LS, Dunbar H. Pseudotrisomy 13 and autosomal recessive holoprosencephaly. J Med Genet 1993; 30: 970-971.
    • (1993) J Med Genet , vol.30 , pp. 970-971
    • Seller, M.J.1    Chitty, L.S.2    Dunbar, H.3
  • 11
    • 0027198999 scopus 로고
    • Holoprosencephaly-polydactyly (pseudotrisomy 13) syndrome: Expansion of the phenotypic spectrum
    • Lurie IW, Wulfsberg EA. "Holoprosencephaly-polydactyly" (pseudotrisomy 13) syndrome: expansion of the phenotypic spectrum. Am J Med Genet 1993; 47: 405-409.
    • (1993) Am J Med Genet , vol.47 , pp. 405-409
    • Lurie, I.W.1    Wulfsberg, E.A.2
  • 12
    • 0034088399 scopus 로고    scopus 로고
    • Pseudotrisomy 13 syndrome in siblings
    • Amor DJ, Woods CG. Pseudotrisomy 13 syndrome in siblings. Clin Dysmorphol 2000; 9: 115-118.
    • (2000) Clin Dysmorphol , vol.9 , pp. 115-118
    • Amor, D.J.1    Woods, C.G.2
  • 13
    • 0013669754 scopus 로고
    • A new syndrome with cyclopia and trisomy 13 features
    • Atkin JF. A new syndrome with cyclopia and trisomy 13 features. Am J Hum Genet 1988; 43: A36.
    • (1988) Am J Hum Genet , vol.43
    • Atkin, J.F.1
  • 14
    • 0025101612 scopus 로고
    • Holoprosencephaly and polydactyly: A possible expression of the hydrolethalus syndrome
    • Bachman H, Clark RD, Salahi W. Holoprosencephaly and polydactyly: a possible expression of the hydrolethalus syndrome. J Med Genet 1990; 27: 50-52.
    • (1990) J Med Genet , vol.27 , pp. 50-52
    • Bachman, H.1    Clark, R.D.2    Salahi, W.3
  • 15
  • 16
    • 27644464367 scopus 로고    scopus 로고
    • Pseudotrisomy 13: Clinical findings and genetic implications
    • Schulz S, Gerloff C, Kalinski T, et al. Pseudotrisomy 13: clinical findings and genetic implications. Fetal Diagn Ther 2005; 20: 501-503.
    • (2005) Fetal Diagn Ther , vol.20 , pp. 501-503
    • Schulz, S.1    Gerloff, C.2    Kalinski, T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.