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Volumn 55, Issue 6, 1999, Pages 493-495

Vaginal uterine agenesis associated with amastia in a phenotypic female with a de novo 46,XX,t(8;13)(q22.1;q32.1) translocation [1]

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; AGENESIS; BREAST AREOLA; CASE REPORT; CHROMOSOME 13Q; CHROMOSOME 8Q; CHROMOSOME TRANSLOCATION 13; CHROMOSOME TRANSLOCATION 8; FEMALE; HUMAN; HUMAN CELL; LETTER; NIPPLE MALFORMATION; PRIORITY JOURNAL; UTERUS MALFORMATION;

EID: 0032793112     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.1999.550617.x     Document Type: Letter
Times cited : (15)

References (17)
  • 1
    • 85120519916 scopus 로고    scopus 로고
    • Rosenberg HK, Sherman NH, Tarry WF, Duckett JW, Snyder HM. Mayer–Rokitansky–Kuster–Hauser Syndrome: US aid to diagnosis, Radiology 1986: 161(3): 815–819.
    • 1 Rosenberg HK, Sherman NH, Tarry WF, Duckett JW, Snyder HM. Mayer–Rokitansky–Kuster–Hauser Syndrome: US aid to diagnosis, Radiology 1986: 161(3): 815–819.
  • 2
    • 0022517118 scopus 로고
    • The Mayer–Rokitansky syndrome: pathogenesis classification and management
    • 2 Tarry WF, Duckett JW, Stephens FD. The Mayer–Rokitansky syndrome: pathogenesis classification and management. J Urology 1986: 136: 648 652.
    • (1986) J Urology , vol.136 , pp. 648-652
    • Tarry, WF1    Duckett, JW2    Stephens, FD3
  • 3
    • 0031037436 scopus 로고    scopus 로고
    • Congenital absence of the uterus and vagina is not commonly transmitted as a dominant genetic trait: outcomes of surrogate pregnancies
    • 3 Petrozza JC, Gray MR, Davis AJ, Reindollar RH. Congenital absence of the uterus and vagina is not commonly transmitted as a dominant genetic trait: outcomes of surrogate pregnancies. Fertil Steril 1997: 67: 387 389.
    • (1997) Fertil Steril , vol.67 , pp. 387-389
    • Petrozza, JC1    Gray, MR2    Davis, AJ3    Reindollar, RH4
  • 4
    • 85120513200 scopus 로고    scopus 로고
    • ISCN. Mitelman F, ed. An International System for Human Cytogenetic Nomenclature. Basel: Karger, 1995.
    • 4 ISCN. Mitelman F, ed. An International System for Human Cytogenetic Nomenclature. Basel: Karger, 1995.
  • 5
    • 0018340524 scopus 로고
    • Abnormal skin fibroblast cytogenetics in four dysmorphic patients with normal lymphocytes chromosomes
    • 5 Pagon RA, Hall JG, Davenport SLH, Aase J, Norwood TH, Hoehn HW. Abnormal skin fibroblast cytogenetics in four dysmorphic patients with normal lymphocytes chromosomes. Am J Hum Genet 1979: 31: 54 61.
    • (1979) Am J Hum Genet , vol.31 , pp. 54-61
    • Pagon, RA1    Hall, JG2    Davenport, SLH3    Aase, J4    Norwood, TH5    Hoehn, HW6
  • 6
    • 85120509195 scopus 로고    scopus 로고
    • Reynolds JF, Daniel A, Webb MJ, Opitz JM. Tetrasomy 12p in fibroblasts: Pallister mosaic aneuploidy, not ‘Teschler‐Nicola Killian’ syndrome. Am J Hum Genet 1984: 36: 71S (#205).
    • 6 Reynolds JF, Daniel A, Webb MJ, Opitz JM. Tetrasomy 12p in fibroblasts: Pallister mosaic aneuploidy, not ‘Teschler‐Nicola Killian’ syndrome. Am J Hum Genet 1984: 36: 71S (#205).
  • 7
    • 0023161316 scopus 로고
    • Mullerian aplasia associated with maternal deficiency of galactose‐1‐phosphate uridyl transferase
    • 7 Cramer DW, Ravnikar VA, Craighill M, Ng WG, Goldstein DP, Reilly R. Mullerian aplasia associated with maternal deficiency of galactose‐1‐phosphate uridyl transferase. Fertil Steril 1987: 47: 930 934.
    • (1987) Fertil Steril , vol.47 , pp. 930-934
    • Cramer, DW1    Ravnikar, VA2    Craighill, M3    Ng, WG4    Goldstein, DP5    Reilly, R6
  • 8
    • 0030089855 scopus 로고    scopus 로고
    • Vaginal agenesis (Mayer–Rokitansky–Kuster–Hauser syndrome) associated with the N314D mutation of galactose‐1‐phosphate uridyl transferase (GALT)
    • 8 Cramer DW, Goldstein DP, Fraer C, Reichardt JKV. Vaginal agenesis (Mayer–Rokitansky–Kuster–Hauser syndrome) associated with the N314D mutation of galactose‐1‐phosphate uridyl transferase (GALT). Molec Human Repro 1996: 2: 145 148.
    • (1996) Molec Human Repro , vol.2 , pp. 145-148
    • Cramer, DW1    Goldstein, DP2    Fraer, C3    Reichardt, JKV4
  • 9
    • 0019773071 scopus 로고
    • Reduction in oocyte number following prenatal exposure to a diet high in galactose
    • 9 Chen Y, Mattison DR, Feigenbaum L, Fukui H, Schulman JD. Reduction in oocyte number following prenatal exposure to a diet high in galactose. Science 1981: 214: 1145 1147.
    • (1981) Science , vol.214 , pp. 1145-1147
    • Chen, Y1    Mattison, DR2    Feigenbaum, L3    Fukui, H4    Schulman, JD5
  • 11
    • 0023969054 scopus 로고
    • Autosomal translocation of chromosomes 12q and 14q in mullerian duct failure
    • 11 Kucheria K, Taneja N, Kinra G. Autosomal translocation of chromosomes 12q and 14q in mullerian duct failure. Indian J Med Res 1988: 87: 290 292.
    • (1988) Indian J Med Res , vol.87 , pp. 290-292
    • Kucheria, K1    Taneja, N2    Kinra, G3
  • 12
    • 85120516228 scopus 로고    scopus 로고
    • Van Lingen BL, Gray MR, Cowan JM. Reindollar RH. Physical mapping of chromosomal translocation breakpoints in a patient with congenital absence of the uterus and vagina. S92. Fifty‐second Annual Meeting of the American Society for Reproductive Medicine. Boston, 1996.
    • 12 Van Lingen BL, Gray MR, Cowan JM. Reindollar RH. Physical mapping of chromosomal translocation breakpoints in a patient with congenital absence of the uterus and vagina. S92. Fifty‐second Annual Meeting of the American Society for Reproductive Medicine. Boston, 1996.
  • 13
    • 0026660151 scopus 로고
    • Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals
    • 13 Brueton LA, Reeve A, Ellis R, Husband P, Thompson EM, Kingston HM. Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals. Am J Med Genet 1992: 43: 612 618.
    • (1992) Am J Med Genet , vol.43 , pp. 612-618
    • Brueton, LA1    Reeve, A2    Ellis, R3    Husband, P4    Thompson, EM5    Kingston, HM6
  • 14
    • 0022876015 scopus 로고
    • Nucleotide sequence, tissue‐specific expression and chromosome location of human carbonic anhydrase III: the human CAIII gene is located on the same chromosome as the closely linked CAI and CAII genes
    • 14 Wade R, Gunning P, Eddy R, Shows T, Kedes L. Nucleotide sequence, tissue‐specific expression and chromosome location of human carbonic anhydrase III: the human CAIII gene is located on the same chromosome as the closely linked CAI and CAII genes. Proc Nat Acad Sci 1986: 83: 9571 9575.
    • (1986) Proc Nat Acad Sci , vol.83 , pp. 9571-9575
    • Wade, R1    Gunning, P2    Eddy, R3    Shows, T4    Kedes, L5
  • 15
    • 0022635602 scopus 로고
    • The gene for human muscle specific carbonic anhydrase (CAIII) is assigned to chromosome 8
    • 15 Edwards YH, Lloyd J, Parkar M, Povey S. The gene for human muscle specific carbonic anhydrase (CAIII) is assigned to chromosome 8. Ann Hum Genet 1986: 50: 41 47.
    • (1986) Ann Hum Genet , vol.50 , pp. 41-47
    • Edwards, YH1    Lloyd, J2    Parkar, M3    Povey, S4
  • 17
    • 85120515927 scopus 로고    scopus 로고
    • Lamhonwah AM, Lam KF, Tsui F, Robinson B, Saunders ME, Gravel R. Assignment of the alpha an beta chains of human propionyl‐CoA carboxylase to genetic complementation groups. Am J Hum Genet 1983: 35: 889–899.
    • 17 Lamhonwah AM, Lam KF, Tsui F, Robinson B, Saunders ME, Gravel R. Assignment of the alpha an beta chains of human propionyl‐CoA carboxylase to genetic complementation groups. Am J Hum Genet 1983: 35: 889–899.


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