메뉴 건너뛰기




Volumn 123 A, Issue 1, 2003, Pages 79-83

Reciprocal Translocation Associated With Multiple Exostoses in Seven Members of a Three Generation Family and Discovered Through an Infertile Male

Author keywords

EXT1; Multiple exostoses; Reciprocal translocations

Indexed keywords

ADOLESCENT; ARTICLE; CHILD; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CLINICAL GENETICS; DISEASE ASSOCIATION; EXT1 GENE; FAMILIAL DISEASE; FEMALE; GENE; HEREDITARY MULTIPLE EXOSTOSIS; HETEROZYGOTE; HUMAN; MALE; MALE INFERTILITY; NEWBORN DEATH; OLIGOSPERMIA; POPULATION; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION; ROBERTSONIAN CHROMOSOME TRANSLOCATION; SPONTANEOUS ABORTION;

EID: 0142232066     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20498     Document Type: Article
Times cited : (5)

References (31)
  • 3
    • 0018407084 scopus 로고
    • The chromosomal basis of human infertility
    • Chandley AC. 1979. The chromosomal basis of human infertility. Br Med Bull 35:181-186.
    • (1979) Br Med Bull , vol.35 , pp. 181-186
    • Chandley, A.C.1
  • 4
    • 0027403375 scopus 로고
    • The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis
    • Curran ME, Atkinson DL, Ewart AK, Morris CA, Leppert MF, Keating MT. 1993. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell 73:159-168.
    • (1993) Cell , vol.73 , pp. 159-168
    • Curran, M.E.1    Atkinson, D.L.2    Ewart, A.K.3    Morris, C.A.4    Leppert, M.F.5    Keating, M.T.6
  • 6
    • 84919579008 scopus 로고
    • Chromosomal abnormalities in mendelian disorders
    • Edwards JH. 1982. Chromosomal abnormalities in mendelian disorders. Lancet 2:322- 323.
    • (1982) Lancet , vol.2 , pp. 322-323
    • Edwards, J.H.1
  • 9
    • 0032401966 scopus 로고    scopus 로고
    • Structural chromosome rearrangements in couples with recurrent fetal wastage
    • Fryns JP, Van Buggenhout G. 1998. Structural chromosome rearrangements in couples with recurrent fetal wastage. Eur J Obstet Gynecol Reprod Biol 81:171-176.
    • (1998) Eur J Obstet Gynecol Reprod Biol , vol.81 , pp. 171-176
    • Fryns, J.P.1    Van Buggenhout, G.2
  • 10
    • 0025810316 scopus 로고
    • Hereditary multiple exostoses
    • Hennekam RC. 1991. Hereditary multiple exostoses. J Med Genet 28:262-266.
    • (1991) J Med Genet , vol.28 , pp. 262-266
    • Hennekam, R.C.1
  • 13
    • 0020521245 scopus 로고
    • Balanced translocations among couples with two or more spontaneous abortions: Are males and females equally likely to be carriers?
    • Lippman-Hand A, Vekemans M. 1983. Balanced translocations among couples with two or more spontaneous abortions: Are males and females equally likely to be carriers? Hum Genet 63(3):252-257.
    • (1983) Hum Genet , vol.63 , Issue.3 , pp. 252-257
    • Lippman-Hand, A.1    Vekemans, M.2
  • 15
    • 0034681139 scopus 로고    scopus 로고
    • The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis ofheparan sulfate
    • McCormick C, Duncan G, Goutsos KT, Tufaro F. 2000. The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis ofheparan sulfate. Proc Natl Acad Sci USA 97:668-673.
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 668-673
    • McCormick, C.1    Duncan, G.2    Goutsos, K.T.3    Tufaro, F.4
  • 16
    • 0026332903 scopus 로고
    • Multiple exostoses in a patient with t(8;11)(q24.11;p15.5)
    • Ogle RF, Dalzell P, Turner G, Wass D, Yip MY. 1991. Multiple exostoses in a patient with t(8;11)(q24.11;p15.5). J Med Genet 28:881-883.
    • (1991) J Med Genet , vol.28 , pp. 881-883
    • Ogle, R.F.1    Dalzell, P.2    Turner, G.3    Wass, D.4    Yip, M.Y.5
  • 17
    • 33646219432 scopus 로고    scopus 로고
    • OMIM (Online Mendelian Inheritance in Man): http://www.ncbi.nlm.nih. gov/omim/
  • 19
    • 0033358653 scopus 로고    scopus 로고
    • Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: Evidence for an extended control region
    • Pfeifer D, Kist R, Dewar K, Devon K, Lander ES, Birren B, Korniszewski L, Back E, Scherer G. 1999. Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: Evidence for an extended control region. Am J Hum Genet 65:111-124.
    • (1999) Am J Hum Genet , vol.65 , pp. 111-124
    • Pfeifer, D.1    Kist, R.2    Dewar, K.3    Devon, K.4    Lander, E.S.5    Birren, B.6    Korniszewski, L.7    Back, E.8    Scherer, G.9
  • 20
    • 0036052632 scopus 로고    scopus 로고
    • Most X;autosome translocations associated with premature ovarian failure do not interrupt X-linked genes
    • Prueitt RL, Chen H, Barnes RI, Zinn AR. 2002. Most X;autosome translocations associated with premature ovarian failure do not interrupt X-linked genes. Cytogenet Genome Res 97:32-38.
    • (2002) Cytogenet Genome Res , vol.97 , pp. 32-38
    • Prueitt, R.L.1    Chen, H.2    Barnes, R.I.3    Zinn, A.R.4
  • 21
    • 0036319425 scopus 로고    scopus 로고
    • Reciprocal products ofchromosomal translocations in human cancer pathogenesis: Key players or innocent bystanders?
    • Rego EM, Pandolfi PP. 2002. Reciprocal products ofchromosomal translocations in human cancer pathogenesis: Key players or innocent bystanders? Trends Mol Med 8:396-405.
    • (2002) Trends Mol Med , vol.8 , pp. 396-405
    • Rego, E.M.1    Pandolfi, P.P.2
  • 23
    • 0022005478 scopus 로고
    • A complex rearrangement, including a deleted 8q, in a case of Langer-Giedion syndrome
    • Schwartz S, Beisel JH, Panny SR, Cohen MM. 1985. A complex rearrangement, including a deleted 8q, in a case of Langer-Giedion syndrome. Clin Genet 27:175-182.
    • (1985) Clin Genet , vol.27 , pp. 175-182
    • Schwartz, S.1    Beisel, J.H.2    Panny, S.R.3    Cohen, M.M.4
  • 24
  • 25
  • 26
    • 0025092789 scopus 로고
    • The critical region on the human Xq
    • Therman E, Laxova R, Susman B. 1990. The critical region on the human Xq. Hum Genet 85:455-461.
    • (1990) Hum Genet , vol.85 , pp. 455-461
    • Therman, E.1    Laxova, R.2    Susman, B.3
  • 29
    • 0034053120 scopus 로고    scopus 로고
    • Molecular basis of multiple exostoses: Mutations in the EXT1 and EXT2 genes
    • Wuyts W, Van Hul W. 2000. Molecular basis of multiple exostoses: Mutations in the EXT1 and EXT2 genes. Hum Mutat 15:220 -227.
    • (2000) Hum Mutat , vol.15 , pp. 220-227
    • Wuyts, W.1    Van Hul, W.2
  • 30
    • 0028058036 scopus 로고
    • Mapping of the 8q23 translocation breakpoint of t(8;13) observed in a patient with multiple exostoses
    • Yoshiura K, Inazawa J, Koyama K, Nakamura Y, Niikawa N. 1994. Mapping of the 8q23 translocation breakpoint of t(8;13) observed in a patient with multiple exostoses. Genes Chromosomes Cancer 9:57-61.
    • (1994) Genes Chromosomes Cancer , vol.9 , pp. 57-61
    • Yoshiura, K.1    Inazawa, J.2    Koyama, K.3    Nakamura, Y.4    Niikawa, N.5
  • 31
    • 0002344366 scopus 로고
    • Frequencies and types of chromosome abnormalities associated with human male infertility
    • Crosignani PG, Rubin BL, editors. Academic Press: London, Toronto, Sydney. Grune & Stratton: New York, San Francisco
    • Zuffardi O, Tiepolo L. 1982. Frequencies and types of chromosome abnormalities associated with human male infertility. In: Crosignani PG, Rubin BL, editors. Genetic control of gamete production and function. Academic Press: London, Toronto, Sydney. Grune & Stratton: New York, San Francisco. pp 261-273.
    • (1982) Genetic Control of Gamete Production and Function , pp. 261-273
    • Zuffardi, O.1    Tiepolo, L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.