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Volumn 46, Issue 4, 2005, Pages 415-418

Ambiguous genitalia by 9p deletion inherent to a dic(Y;9)(q12;p24)

Author keywords

9p chromosome; Deletion; Sex reversal

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 9; CONGENITAL MALFORMATION; GENE TRANSLOCATION; GENETICS; HUMAN; INFANT; KARYOTYPING; MALE; MALE GENITAL SYSTEM; MEXICO; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; Y CHROMOSOME;

EID: 31144460200     PISSN: 12341983     EISSN: 12341983     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (10)

References (14)
  • 2
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    • Chromosome breakage hotspots and delineation of the critical region for the 9p- deletion syndrome
    • Christ LA, Crowe CA, Micaele MA, Conroy JM, Schwartz S, 1999. Chromosome breakage hotspots and delineation of the critical region for the 9p- deletion syndrome.AmJ Hum Genet 65: 1387-1395.
    • (1999) Am J Hum Genet , vol.65 , pp. 1387-1395
    • Christ, L.A.1    Crowe, C.A.2    Micaele, M.A.3    Conroy, J.M.4    Schwartz, S.5
  • 4
    • 0037156313 scopus 로고    scopus 로고
    • Two cases with partial trisomy 9p: Molecular cytogenetic characeterization and clinical follow-up
    • Littooij AS, Hochstenbach R, Sinke RJ, van Tintelen P, Giltay JC, 2002. Two cases with partial trisomy 9p: molecular cytogenetic characeterization and clinical follow-up. Am J Med Genet 109: 125-132.
    • (2002) Am J Med Genet , vol.109 , pp. 125-132
    • Littooij, A.S.1    Hochstenbach, R.2    Sinke, R.J.3    Van Tintelen, P.4    Giltay, J.C.5
  • 6
    • 0034162155 scopus 로고    scopus 로고
    • The region on 9p associated with 46,XY sex reversal contains several transcripts expressed in the urogenital system and a novel doublesex-related domain
    • Ottolenghi C, Veitia R, Quintana-Murci Ll, Torchard D, Scapoli L, Souleyreau-Therville N, et al. 2000. The region on 9p associated with 46,XY sex reversal contains several transcripts expressed in the urogenital system and a novel doublesex-related domain. Genomics 64: 170-178.
    • (2000) Genomics , vol.64 , pp. 170-178
    • Ottolenghi, C.1    Veitia, R.2    Quintana-Murci, Ll.3    Torchard, D.4    Scapoli, L.5    Souleyreau-Therville, N.6
  • 7
    • 7444266692 scopus 로고    scopus 로고
    • Three patients with 9p deletion including DMRT1 and DMRT2: A girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development
    • Óunap K, Uibo O, Zordania R, Kiho L, Ilus T, Óiglane-Shlik E, Bartsch O, 2004. Three patients with 9p deletion including DMRT1 and DMRT2: A girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development. Am J Med Genet 130A: 415-423.
    • (2004) Am J Med Genet , vol.130 A , pp. 415-423
    • Óunap, K.1    Uibo, O.2    Zordania, R.3    Kiho, L.4    Ilus, T.5    Óiglane-Shlik, E.6    Bartsch, O.7
  • 8
    • 34249690718 scopus 로고    scopus 로고
    • The human Y chromosome: The biological role of a "functional wasteland"
    • Quintana-Murci L, Fellows M, 2001. The human Y chromosome: the biological role of a "functional wasteland". J Biomed Biotechnol 1: 18-24.
    • (2001) J Biomed Biotechnol , vol.1 , pp. 18-24
    • Quintana-Murci, L.1    Fellows, M.2
  • 10
    • 0345862024 scopus 로고    scopus 로고
    • Complex chromosome re-arrangement 45,X,t(Y;9) in a girl with sex reversal and mental retardation
    • Ravel de TJL, Fryns JP, VanDriessche J, Vermeesch JR, 2004. Complex chromosome re-arrangement 45,X,t(Y;9) in a girl with sex reversal and mental retardation. Am J Med Genet 124A: 259-262.
    • (2004) Am J Med Genet , vol.124 A , pp. 259-262
    • De Ravel, T.J.L.1    Fryns, J.P.2    VanDriessche, J.3    Vermeesch, J.R.4
  • 12
    • 0034077305 scopus 로고    scopus 로고
    • FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primates
    • Shan Z, Zabel B, Trautmann U, Hillig U, Ottolenghi C, Wang Y, Haaf T, 2000. FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primates. Eur J Hum Genet 8: 167-173.
    • (2000) Eur J Hum Genet , vol.8 , pp. 167-173
    • Shan, Z.1    Zabel, B.2    Trautmann, U.3    Hillig, U.4    Ottolenghi, C.5    Wang, Y.6    Haaf, T.7
  • 13
    • 0034754597 scopus 로고    scopus 로고
    • Alternative centromeric inactivation in a pseudodicentric t(Y;13)(q12;p11.2) translocation chromosome associated with extreme oligozoospermia
    • Siffroi JP, Benzacken B, Angelopoulou R, Bourhis CL, Berthaut I, Kanafani S, et al. 2001. Alternative centromeric inactivation in a pseudodicentric t(Y;13)(q12;p11.2) translocation chromosome associated with extreme oligozoospermia. J Med Genet 38: 802-806.
    • (2001) J Med Genet , vol.38 , pp. 802-806
    • Siffroi, J.P.1    Benzacken, B.2    Angelopoulou, R.3    Bourhis, C.L.4    Berthaut, I.5    Kanafani, S.6
  • 14
    • 18444375272 scopus 로고    scopus 로고
    • Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses
    • Vialard F, Ottolenghi C, Gonzalez M, Choiset A, Girard S, Siffroi JP, et al. 2002. Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses. J Med Genet 39: 514-518.
    • (2002) J Med Genet , vol.39 , pp. 514-518
    • Vialard, F.1    Ottolenghi, C.2    Gonzalez, M.3    Choiset, A.4    Girard, S.5    Siffroi, J.P.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.