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Clinical Dysmorphology
Volumn 15, Issue 2, 2006, Pages 81-84
Pfeiffer-type cardiocranial syndrome: A patient with features of this condition and with an unbalanced subtelomeric rearrangement involving chromosomes 1p and 17q
Author keywords

17q; 1p; Craniosynostosis; Pfeiffer cardiocranial; Sagittal suture
Indexed keywords

ARTICLE; BLOOD SAMPLING; CASE REPORT; CHROMOSOME 17Q; CHROMOSOME 1P; CHROMOSOME ANALYSIS; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; CRANIOFACIAL SYNOSTOSIS; GENITAL MALFORMATION; GROWTH RETARDATION; HUMAN; HYPERTELORISM; LEARNING DISORDER; LOW SET EAR; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MICROGNATHIA; MONOSOMY; PFEIFFER TYPE CARDIOCRANIAL SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN; TELOMERE; TEMPOROMANDIBULAR ANKYLOSIS; TRISOMY;
EID: 33749238351     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mcd.0000184974.22399.c0     Document Type: Article
Times cited : (4)
References (8)
  • 1
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    • Duplication (partial trisomy) of the distal long arm of chromosome 17: A new clinically recognizable chromosome disorder
    • Berberich MS, Carey JC, Lawce HJ, Hall BD (1978). Duplication (partial trisomy) of the distal long arm of chromosome 17: a new clinically recognizable chromosome disorder. Birth Defects Orig Art Ser XIV:287-295.
    • (1978) Birth Defects Orig Art Ser , vol.14 , pp. 287-295
    • Berberich, M.S.1    Carey, J.C.2    Lawce, H.J.3    Hall, B.D.4
  • 3
    • 0022003667 scopus 로고
    • De novo distal trisomy 17q
    • Orye E, Van Bever H (1985). De novo distal trisomy 17q. Ann Genet 28:61-62.
    • (1985) Ann Genet , vol.28 , pp. 61-62
    • Orye, E.1    Van Bever, H.2
  • 4
    • 0023155838 scopus 로고
    • Sagittal craniostenosis, congenital heart disease, mental deficiency and various dysmorphies in two sibs: A 'new' syndrome?
    • Pfeiffer RA, Singer H, Zschiesche S (1987). Sagittal craniostenosis, congenital heart disease, mental deficiency and various dysmorphies in two sibs: a 'new' syndrome? Eur J Pediatr 146:75-78.
    • (1987) Eur J Pediatr , vol.146 , pp. 75-78
    • Pfeiffer, R.A.1    Singer, H.2    Zschiesche, S.3
  • 5
    • 0030895660 scopus 로고    scopus 로고
    • Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with de novo unbalanced translocation due to a postzygotic error: Case report and review of the literature on partial trisomy 17qter
    • Sarri C, Gyftodimou J, Avramopoulos D, Grigoriadou M, Pedersen W, Pandelia E, et al. (1997). Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with de novo unbalanced translocation due to a postzygotic error: case report and review of the literature on partial trisomy 17qter. Am J Med Genet (A) 70:87-94.
    • (1997) Am J Med Genet (A) , vol.70 , pp. 87-94
    • Sarri, C.1    Gyftodimou, J.2    Avramopoulos, D.3    Grigoriadou, M.4    Pedersen, W.5    Pandelia, E.6
  • 7
    • 0024842172 scopus 로고
    • Third case of Pfeiffer-type cardiocranial syndrome
    • Stratton RF, Parsons DS (1989). Third case of Pfeiffer-type cardiocranial syndrome. Am J Med Genet 34:587-588.
    • (1989) Am J Med Genet , vol.34 , pp. 587-588
    • Stratton, R.F.1    Parsons, D.S.2
  • 8
    • 0028827250 scopus 로고
    • Pfeiffer type cardiocranial syndrome: A third case report
    • Williamson-Kruse L, Biesecker LG (1995). Pfeiffer type cardiocranial syndrome: a third case report. J Med Genet 32:901-903.
    • (1995) J Med Genet , vol.32 , pp. 901-903
    • Williamson-Kruse, L.1    Biesecker, L.G.2

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.