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Volumn 46, Issue 4, 2003, Pages 443-448

FISH and PCR analyses in three patients with 45,X/46,X,idic(Y) karyotype: Clinical and pathologic spectrum

Author keywords

45,X 46,X,idic(Y); Molecular analysis; SRY gene; Testicular development

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CYTOGENETICS; ENDOCRINE SYSTEM; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE SEQUENCE; GENITAL SYSTEM DISEASE; GONAD; HISTOLOGY; HUMAN; HUMAN TISSUE; KARYOTYPE 45,X; KARYOTYPE 46,XY; KARYOTYPING; MALE; MALE PSEUDOHERMAPHRODITISM; MOLECULAR EVOLUTION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; SEX CHROMOSOME; SEX DIFFERENTIATION; SRY GENE; TESTIS DEVELOPMENT; TURNER SYNDROME; Y CHROMOSOME;

EID: 0344392088     PISSN: 00033995     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0003-3995(03)00016-9     Document Type: Article
Times cited : (31)

References (26)
  • 1
    • 0032827932 scopus 로고    scopus 로고
    • Mixed gonadal dysgenesis: A syndrome of broad clinical, cytogenetic and histopathologic spectrum
    • F. Álvarez-Nava, S. González, L. Pineda, M. Soto, A. Morales-Machin, Mixed gonadal dysgenesis: a syndrome of broad clinical, cytogenetic and histopathologic spectrum, Genet. Couns. 10 (1999) 233-243.
    • (1999) Genet. Couns. , vol.10 , pp. 233-243
    • Álvarez-Nava, F.1    González, S.2    Pineda, L.3    Soto, M.4    Morales-Machin, A.5
  • 2
    • 18744430280 scopus 로고    scopus 로고
    • FISH and PCR analysis of the presence of Y-chromosome sequences in a patient with Xq-isochromosome and testicular tissue
    • F. Álvarez-Nava, M.C. Martínez, S. González, M. Soto, L. Borjas, A. Rojas, FISH and PCR analysis of the presence of Y-chromosome sequences in a patient with Xq-isochromosome and testicular tissue, Clin. Genet. 55 (1999) 356-361.
    • (1999) Clin. Genet. , vol.55 , pp. 356-361
    • Álvarez-Nava, F.1    Martínez, M.C.2    González, S.3    Soto, M.4    Borjas, L.5    Rojas, A.6
  • 3
    • 0026335160 scopus 로고
    • Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: Its relevance to the understanding of sex differentiation
    • G.D. Berkovitz, P.Y. Fechner, H.W. Zacur, J.A. Rock, H.M. Snyder, C.J. Migeon, E. Perlman, Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation, Medicine 70 (1991) 375-383.
    • (1991) Medicine , vol.70 , pp. 375-383
    • Berkovitz, G.D.1    Fechner, P.Y.2    Zacur, H.W.3    Rock, J.A.4    Snyder, H.M.5    Migeon, C.J.6    Perlman, E.7
  • 5
    • 0015813396 scopus 로고
    • Mixed gonadal dysgenesis
    • F. Davidoff, D.D. Federman, Mixed gonadal dysgenesis, Pediatrics 52 (1973) 725-742.
    • (1973) Pediatrics , vol.52 , pp. 725-742
    • Davidoff, F.1    Federman, D.D.2
  • 7
    • 0018399172 scopus 로고
    • Mixed gonadal dysgenesis, pathogenesis and management
    • P.K. Donahoe, J.D. Crawford, W.H. Hendren, Mixed gonadal dysgenesis, pathogenesis and management, J. Pediatr. Surg. 14 (1979) 287-300.
    • (1979) J. Pediatr. Surg. , vol.14 , pp. 287-300
    • Donahoe, P.K.1    Crawford, J.D.2    Hendren, W.H.3
  • 8
    • 0025122061 scopus 로고
    • The polymerase chain reaction. A new method of using molecular genetics for medical diagnosis
    • B.I. Eisenstein, The polymerase chain reaction. A new method of using molecular genetics for medical diagnosis, N. Engl. J. Med. 322 (1990) 178-183.
    • (1990) N. Engl. J. Med. , vol.322 , pp. 178-183
    • Eisenstein, B.I.1
  • 10
    • 0002948430 scopus 로고    scopus 로고
    • Disorders of sex differentiation
    • J.D. Wilson, D.W. Foster (Eds.), Saunders, Philadelphia
    • M.M. Grumbach, F.A. Conte, Disorders of sex differentiation, in: J.D. Wilson, D.W. Foster (Eds.), Williams Textbook of Endocrinology, Saunders, Philadelphia, 1998, pp. 1303-1425.
    • (1998) Williams Textbook of Endocrinology , pp. 1303-1425
    • Grumbach, M.M.1    Conte, F.A.2
  • 11
    • 0028072677 scopus 로고
    • Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberration in postnatally diagnosed cases
    • L.Y.F. Hsu, Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberration in postnatally diagnosed cases. Am. J. Med. Genet. 53 (1994) 108-140.
    • (1994) Am. J. Med. Genet. , vol.53 , pp. 108-140
    • Hsu, L.Y.F.1
  • 15
    • 0024595101 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
    • M. Orita, H. Iwahana, H. Kanazawa, K. Hayashi, T. Sekiya, Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms, Proc. Natl. Acad. Sci. USA 86 (1989) 2766-2770.
    • (1989) Proc. Natl. Acad. Sci. USA , vol.86 , pp. 2766-2770
    • Orita, M.1    Iwahana, H.2    Kanazawa, H.3    Hayashi, K.4    Sekiya, T.5
  • 16
    • 0022446922 scopus 로고
    • Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization
    • D. Pinkel, T. Straume, J.W. Gray, Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization, Proc. Natl. Acad. Sci. USA 83 (1983) 2934-2938.
    • (1983) Proc. Natl. Acad. Sci. USA , vol.83 , pp. 2934-2938
    • Pinkel, D.1    Straume, T.2    Gray, J.W.3
  • 21
    • 0028240486 scopus 로고
    • A novel mutation localized in the 3′ non-HMG box region of the SRY gene in 46,XY gonadal dysgenesis
    • T. Tajima, J. Nakae, N. Shinohara, K. Fujieda, A novel mutation localized in the 3′ non-HMG box region of the SRY gene in 46,XY gonadal dysgenesis, Hum. Mol. Genet. 3 (1994) 1187-1189.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 1187-1189
    • Tajima, T.1    Nakae, J.2    Shinohara, N.3    Fujieda, K.4
  • 23
    • 0025601882 scopus 로고
    • Correlation of the testicular determinant factor sequence zinc finger Y with varying gonadal phenotypes in a series of 13 subjects with gonadal dysgenesis due to Y aneuploidy
    • S. Tho, A. Behzadian, J.R. Byrd, P.G. McDonough, Correlation of the testicular determinant factor sequence zinc finger Y with varying gonadal phenotypes in a series of 13 subjects with gonadal dysgenesis due to Y aneuploidy, Am. J. Obstet. Gynecol. 163 (1990) 1968-1975.
    • (1990) Am. J. Obstet. Gynecol. , vol.163 , pp. 1968-1975
    • Tho, S.1    Behzadian, A.2    Byrd, J.R.3    McDonough, P.G.4
  • 24
    • 0025280838 scopus 로고
    • Mixed gonadal dysgenesis. A review of 15 patients reporting cases of malignant intratubular germ cell neoplasia of the testis, endometrial adenocarcinoma and a complex vascular anomaly
    • T.M. Wallace, H.S. Levin, Mixed gonadal dysgenesis. A review of 15 patients reporting cases of malignant intratubular germ cell neoplasia of the testis, endometrial adenocarcinoma and a complex vascular anomaly, Arch. Pathol. Lab. Med. 114 (1990) 679-688.
    • (1990) Arch. Pathol. Lab. Med. , vol.114 , pp. 679-688
    • Wallace, T.M.1    Levin, H.S.2
  • 25
    • 0002538655 scopus 로고
    • Sample preparation from paraffin-embedded tissues
    • M.A. Innis, D.H. Gelfand, J.J. Sninsky, T.J. White (Eds.), Academic Press Inc., San Diego, California
    • D.K. Wright, M.M. Manos, Sample preparation from paraffin-embedded tissues, in: M.A. Innis, D.H. Gelfand, J.J. Sninsky, T.J. White (Eds.), PCR Protocols, Academic Press Inc., San Diego, California, 1990, pp. 153-158.
    • (1990) PCR Protocols , pp. 153-158
    • Wright, D.K.1    Manos, M.M.2
  • 26
    • 0027303163 scopus 로고
    • A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis
    • Y. Zeng, Z. Ren, M. Zhang, Y. Huang, F. Zeng, S. Huang, A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis, J. Med. Genet. 30 (1993) 655-657.
    • (1993) J. Med. Genet. , vol.30 , pp. 655-657
    • Zeng, Y.1    Ren, Z.2    Zhang, M.3    Huang, Y.4    Zeng, F.5    Huang, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.