메뉴 건너뛰기




Volumn 52, Issue 3, 1997, Pages 180-183

Familial inv(X)(p22q22): Ovarian dysgenesis in two sisters with del Xq and fertility in one male carrier

Author keywords

Chromosome X; Fertility; Gonadal dysgenesis; Pericentric inversion; Recombinant chromosome

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME ARM; CHROMOSOME DELETION; FEMALE; GONADAL DYSGENESIS; HUMAN; MALE; MALE INFERTILITY; PERICENTRIC CHROMOSOME INVERSION; PHENOTYPE; PRIORITY JOURNAL; SHORT STATURE; TALL STATURE; X CHROMOSOME; X CHROMOSOME INACTIVATION;

EID: 0030881516     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1997.tb02541.x     Document Type: Article
Times cited : (16)

References (29)
  • 1
    • 0021195404 scopus 로고
    • Inversion péricentrique familiale du chromosome X inv(X)(p11q28)
    • Baumann W, Zabel B, Holl M. Inversion péricentrique familiale du chromosome X inv(X)(p11q28). Ann Génét 1984: 27: 106-108.
    • (1984) Ann Génét , vol.27 , pp. 106-108
    • Baumann, W.1    Zabel, B.2    Holl, M.3
  • 2
    • 0022915365 scopus 로고
    • Inverted Y chromosome polymorphism in the Gujerati Muslin Indian population of South Africa
    • Bernstein R, Wadee A, Rosendorff J, Wessels A, Jenkins T. Inverted Y chromosome polymorphism in the Gujerati Muslin Indian population of South Africa. Hum Genet 1986: 74: 223-229.
    • (1986) Hum Genet , vol.74 , pp. 223-229
    • Bernstein, R.1    Wadee, A.2    Rosendorff, J.3    Wessels, A.4    Jenkins, T.5
  • 5
    • 26144479851 scopus 로고
    • Random X inactivation patterns in a patient with a pericentric inversion of the X-chromosome
    • Cerrillo M, Varela M. Random X inactivation patterns in a patient with a pericentric inversion of the X-chromosome. Am J Hum Genet 1986: 39: A108.
    • (1986) Am J Hum Genet , vol.39
    • Cerrillo, M.1    Varela, M.2
  • 6
    • 0023780304 scopus 로고
    • A recombinant X chromosome in a short statured girl resulting from a maternal pericentric inversion
    • Duckett DP, Young ID. A recombinant X chromosome in a short statured girl resulting from a maternal pericentric inversion. Hum Genet 1988: 79: 251-254.
    • (1988) Hum Genet , vol.79 , pp. 251-254
    • Duckett, D.P.1    Young, I.D.2
  • 7
    • 0027089750 scopus 로고
    • Identification of a second pseudoautosomal region near the Xq and Yq telomeres
    • Freije D, Helms C, Watson MS, Donis-Keller H. Identification of a second pseudoautosomal region near the Xq and Yq telomeres. Science 1992: 258: 1784-1787.
    • (1992) Science , vol.258 , pp. 1784-1787
    • Freije, D.1    Helms, C.2    Watson, M.S.3    Donis-Keller, H.4
  • 9
    • 0022532840 scopus 로고
    • Pericentric inversions in man. A French collaborative study
    • Groupe de Cytogénéticiens Français. Pericentric inversions in man. A French collaborative study. Ann Genet 1986: 29: 129-168.
    • (1986) Ann Genet , vol.29 , pp. 129-168
  • 10
    • 0028036261 scopus 로고
    • Is X-Y recombination necessary for spermatocyte survival during mammalian spermatogenesis?
    • Hale DW. Is X-Y recombination necessary for spermatocyte survival during mammalian spermatogenesis? Cytogenet Cell Genet 1994: 65: 272-282.
    • (1994) Cytogenet Cell Genet , vol.65 , pp. 272-282
    • Hale, D.W.1
  • 12
    • 0020409098 scopus 로고
    • Pericentric X inversion in dizygotic twins who differ in X chromosome inactivation and menstrual cycle function
    • Keitges EA, Palmer CG, Weaver DD. Pericentric X inversion in dizygotic twins who differ in X chromosome inactivation and menstrual cycle function. Hum Genet 1982: 62: 210-213.
    • (1982) Hum Genet , vol.62 , pp. 210-213
    • Keitges, E.A.1    Palmer, C.G.2    Weaver, D.D.3
  • 13
    • 0016427439 scopus 로고
    • Structural X-chromosome abnormality in a female with gonadal dysgenesis
    • Kristensen H, Friedrich U, Larsen G, Therkelsen AJ. Structural X-chromosome abnormality in a female with gonadal dysgenesis. Humangenetik 1975: 26: 133-138.
    • (1975) Humangenetik , vol.26 , pp. 133-138
    • Kristensen, H.1    Friedrich, U.2    Larsen, G.3    Therkelsen, A.J.4
  • 14
    • 0020559402 scopus 로고
    • Balanced structural changes involving the human X: Effect on sexual phenotype
    • Madan K. Balanced structural changes involving the human X: effect on sexual phenotype. Hum Genet 1983: 63: 216-221.
    • (1983) Hum Genet , vol.63 , pp. 216-221
    • Madan, K.1
  • 15
    • 0018341850 scopus 로고
    • Turner's syndrome with a duplication deficiency X chromosome derived from a maternal pericentric inversion X chromosome
    • Maeda T, Ohno M, Takada M, Nishida M, Tsukioka K, Tomita H. Turner's syndrome with a duplication deficiency X chromosome derived from a maternal pericentric inversion X chromosome. Clin Genet 1979: 15: 259-266.
    • (1979) Clin Genet , vol.15 , pp. 259-266
    • Maeda, T.1    Ohno, M.2    Takada, M.3    Nishida, M.4    Tsukioka, K.5    Tomita, H.6
  • 16
    • 0020367269 scopus 로고
    • X-autosome translocations: Cytogenetic characteristics and their consequences
    • Mattei MG, Mattei JF, Ayme S, Giraud F. X-autosome translocations: cytogenetic characteristics and their consequences. Hum Genet 1982: 61: 295-309.
    • (1982) Hum Genet , vol.61 , pp. 295-309
    • Mattei, M.G.1    Mattei, J.F.2    Ayme, S.3    Giraud, F.4
  • 17
    • 2342615799 scopus 로고
    • Cytogenetic and molecular studies on a recombinant human X chromosome: Implications for the spreading of X chromosome inactivation
    • Mohandas T, Geller RL, Yen PH, Rosendorff J, Bernstein R, Yoshida A, Shapiro J. Cytogenetic and molecular studies on a recombinant human X chromosome: implications for the spreading of X chromosome inactivation. Proc Natl Acad Sci USA 1987: 84: 4954-4958.
    • (1987) Proc Natl Acad Sci USA , vol.84 , pp. 4954-4958
    • Mohandas, T.1    Geller, R.L.2    Yen, P.H.3    Rosendorff, J.4    Bernstein, R.5    Yoshida, A.6    Shapiro, J.7
  • 18
    • 0016055944 scopus 로고
    • Familiarni vyskyt pericentricke inverze X chromosomu
    • Niebuhr E, Seemanova E, Losan F. Familiarni vyskyt pericentricke inverze X chromosomu. Cs Pediat 1974: 29: 245-247.
    • (1974) Cs Pediat , vol.29 , pp. 245-247
    • Niebuhr, E.1    Seemanova, E.2    Losan, F.3
  • 19
    • 0018125096 scopus 로고
    • Recombinant chromosome as a result of pericentric inversion of X chromosome
    • Nikolis J, Stolevic E. Recombinant chromosome as a result of pericentric inversion of X chromosome. Hum Genet 1978: 45: 115-122.
    • (1978) Hum Genet , vol.45 , pp. 115-122
    • Nikolis, J.1    Stolevic, E.2
  • 21
    • 0027476528 scopus 로고
    • Inversion (X) (p11.4q22) associated with Norrie disease in a four-generation family
    • Pettenati MJ, Rao PN, Weaver RG, Thomas IT, McMahan MR. Inversion (X) (p11.4q22) associated with Norrie disease in a four-generation family. Am J Med Genet 1993: 45: 577-580.
    • (1993) Am J Med Genet , vol.45 , pp. 577-580
    • Pettenati, M.J.1    Rao, P.N.2    Weaver, R.G.3    Thomas, I.T.4    McMahan, M.R.5
  • 22
    • 0022885590 scopus 로고
    • Pericentric inversions of the X chromosome. A new observation and review of the published cases
    • Pfeiffer RA, Kossakiewicz M, Baisch C. Pericentric inversions of the X chromosome. A new observation and review of the published cases. J Genet Hum 1986: 34: 331-337.
    • (1986) J Genet Hum , vol.34 , pp. 331-337
    • Pfeiffer, R.A.1    Kossakiewicz, M.2    Baisch, C.3
  • 23
    • 1842326593 scopus 로고
    • Variations in replication pattern and phenotype in two cases of X chromosome inversion
    • Potter AM. Variations in replication pattern and phenotype in two cases of X chromosome inversion. J Med Genet 1982: 19: 63.
    • (1982) J Med Genet , vol.19 , pp. 63
    • Potter, A.M.1
  • 24
    • 0002656112 scopus 로고
    • Somatometría pediátrica
    • Méx
    • Ramos Galván R. Somatometría pediátrica. Arch Invest Med (Méx) 1975: 6 (suppl. 1): 238-242.
    • (1975) Arch Invest Med , vol.6 , Issue.1 SUPPL. , pp. 238-242
    • Ramos Galván, R.1
  • 25
    • 26144471032 scopus 로고    scopus 로고
    • A maternally derived recombinant inversion X chromosome in phenotypically abnormal twin brothers
    • Ray JH, Zhou XT, Sanz MM, Perrone R, Pletcher BA, Bialer MG. A maternally derived recombinant inversion X chromosome in phenotypically abnormal twin brothers. Am J Hum Genet 1996: 59: A361.
    • (1996) Am J Hum Genet , vol.59
    • Ray, J.H.1    Zhou, X.T.2    Sanz, M.M.3    Perrone, R.4    Pletcher, B.A.5    Bialer, M.G.6
  • 26
    • 0015618113 scopus 로고
    • X inactivation in man: A woman with t(Xq-;12q+)
    • Sarto GE, Therman E, Patau K. X inactivation in man: a woman with t(Xq-;12q+). Am J Hum Genet 1973: 25: 262-270.
    • (1973) Am J Hum Genet , vol.25 , pp. 262-270
    • Sarto, G.E.1    Therman, E.2    Patau, K.3
  • 27
    • 0026001402 scopus 로고
    • Pericentric inversion of the X chromosome: Presentation of a case and review of the literature
    • Shorderet DF, Friedman C, Disteche C. Pericentric inversion of the X chromosome: presentation of a case and review of the literature. Ann Genet 1991: 34: 98-103.
    • (1991) Ann Genet , vol.34 , pp. 98-103
    • Shorderet, D.F.1    Friedman, C.2    Disteche, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.