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Volumn 26, Issue 4, 1997, Pages 507-509

De Novo Interstitial Deletion of Chromosome 1p with Absent Corpus Callosum - A Case Report

Author keywords

Asian; Hypoplastic genitalia; Mesomelic shortening; Robinow syndrome

Indexed keywords

ARTICLE; BONE; CASE REPORT; CHINA; CHROMOSOME 1; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CLITORIS; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; CORPUS CALLOSUM; FACIES; FATALITY; FEMALE; GENETICS; HUMAN; KARYOTYPING; MULTIPLE MALFORMATION SYNDROME; NEWBORN;

EID: 0031174517     PISSN: 03044602     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (13)

References (11)
  • 1
    • 0025134022 scopus 로고
    • Deletion of chromosome 1p. A short review
    • Howard P J, Porteus M. Deletion of chromosome 1p. A short review. Clin Genet 1990; 37:127-31.
    • (1990) Clin Genet , vol.37 , pp. 127-131
    • Howard, P.J.1    Porteus, M.2
  • 2
    • 0014397662 scopus 로고
    • A large deletion of chromosome 1(46 XY,1?)
    • Aarskog D. A large deletion of chromosome 1(46 XY,1?). J Med Genet 1968; 5:322-5.
    • (1968) J Med Genet , vol.5 , pp. 322-325
    • Aarskog, D.1
  • 4
    • 0023215599 scopus 로고
    • Interstitial deletion of 1p in a 30 year old woman
    • Peterson M B, Warburgh M. Interstitial deletion of 1p in a 30 year old woman. J Med Genet 1987; 24:229-31.
    • (1987) J Med Genet , vol.24 , pp. 229-231
    • Peterson, M.B.1    Warburgh, M.2
  • 5
  • 7
    • 0042131077 scopus 로고
    • A simple high resolution chromosome banding technique and its application to regional mapping of PGM1 by exclusion of chromosome 1p.HGM6
    • Ikeuchi T, Tonomura A, Najima H, Kawasaki C, Nemoto H. A simple high resolution chromosome banding technique and its application to regional mapping of PGM1 by exclusion of chromosome 1p.HGM6. Cytogenet Cell Genet 1982; 32:287.
    • (1982) Cytogenet Cell Genet , vol.32 , pp. 287
    • Ikeuchi, T.1    Tonomura, A.2    Najima, H.3    Kawasaki, C.4    Nemoto, H.5
  • 9
    • 0027202255 scopus 로고
    • The Robinow (fetal face) syndrome: A continuing puzzle
    • Robinow M. The Robinow (fetal face) syndrome: a continuing puzzle. Clin Dysmorphology 1993; 2:189-98.
    • (1993) Clin Dysmorphology , vol.2 , pp. 189-198
    • Robinow, M.1
  • 10
    • 0015652687 scopus 로고
    • Robinow dwarfing syndrome accompanying penile agenesis and hemivertebrae
    • Vera-Roman J M. Robinow dwarfing syndrome accompanying penile agenesis and hemivertebrae. Am J Dis Child 1973; 126:206-8.
    • (1973) Am J Dis Child , vol.126 , pp. 206-208
    • Vera-Roman, J.M.1
  • 11
    • 0019947239 scopus 로고
    • Male to male transmission of Robinow syndrome. Its occurrence in association with cleft lip and palate
    • Shprinzten R J, Goldberg R B, Saenger P, Sidoti E J. Male to male transmission of Robinow syndrome. Its occurrence in association with cleft lip and palate. Am J Dis Child 1982; 136:594-7.
    • (1982) Am J Dis Child , vol.136 , pp. 594-597
    • Shprinzten, R.J.1    Goldberg, R.B.2    Saenger, P.3    Sidoti, E.J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.