메뉴 건너뛰기




Volumn 51, Issue 5, 1997, Pages 346-350

Molecular studies of an X;Y translocation chromosome in a woman with deletion of the pseudoautosomal region but normal height

Author keywords

Growth controlling genes; X; Y hamology; X; Y translocation; Y chromosome anomalies; Y specific growth gene

Indexed keywords

ADULT; ARTICLE; BODY HEIGHT; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME TRANSLOCATION; CHROMOSOME TRANSLOCATION X; CRANIOFACIAL MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE FUNCTION; GROWTH REGULATION; GROWTH RETARDATION; HEMIZYGOSITY; HUMAN; HUMAN CELL; KARYOTYPE 46,XY; KYPHOSCOLIOSIS; MARKER GENE; MOLECULAR GENETICS; MOLECULAR PROBE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEX CHROMOSOME;

EID: 0030926667     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1997.tb02486.x     Document Type: Article
Times cited : (12)

References (28)
  • 1
    • 0018817779 scopus 로고
    • Y-to-X chromosome translocation observed in two generations
    • Akesson HO, Hagberg B, Wahlström J. Y-to-X chromosome translocation observed in two generations. Hum Genet 1980: 55: 39-42.
    • (1980) Hum Genet , vol.55 , pp. 39-42
    • Akesson, H.O.1    Hagberg, B.2    Wahlström, J.3
  • 2
    • 0019119271 scopus 로고
    • X;Y translocation in an adolescent mentally normal phenotypic male with features of hypogonadism
    • Bernstein R, Pinto MR, Almeida M, Solarsh SM, Meek J, Jenkins T. X;Y translocation in an adolescent mentally normal phenotypic male with features of hypogonadism. J Med Genet 1980: 17: 437-443.
    • (1980) J Med Genet , vol.17 , pp. 437-443
    • Bernstein, R.1    Pinto, M.R.2    Almeida, M.3    Solarsh, S.M.4    Meek, J.5    Jenkins, T.6
  • 4
    • 0026726412 scopus 로고
    • The human Y chromosome: Overlapping DNA clones spanning the euchromistic region
    • Foote S, Vollrath D, Hilton A, Page DC. The human Y chromosome: overlapping DNA clones spanning the euchromistic region. Science 1992: 258: 60-66.
    • (1992) Science , vol.258 , pp. 60-66
    • Foote, S.1    Vollrath, D.2    Hilton, A.3    Page, D.C.4
  • 7
    • 0028072677 scopus 로고
    • Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases
    • Hsu LYF. Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet 1994: 53: 108-140.
    • (1994) Am J Med Genet , vol.53 , pp. 108-140
    • Hsu, L.Y.F.1
  • 11
    • 0002345846 scopus 로고
    • Hybridization finger printing in genome mapping and sequencing
    • Davies KE, Tilghman S, eds. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory
    • Lehrach H, Drmanac R, Hoheisel JD, Larin Z, Lennon G, Monaco AP, Nizetic D, et al. Hybridization finger printing in genome mapping and sequencing. In: Davies KE, Tilghman S, eds. Genome analysis. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory, 1990: 39-81.
    • (1990) Genome Analysis , pp. 39-81
    • Lehrach, H.1    Drmanac, R.2    Hoheisel, J.D.3    Larin, Z.4    Lennon, G.5    Monaco, A.P.6    Nizetic, D.7
  • 13
    • 0027219490 scopus 로고
    • Sex chromosome aberrations and stature: Deduction of the principal factors involved in the determination of adult height
    • Ogata T, Matsuo N. Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height. Hum Genet 1993: 91: 551-562.
    • (1993) Hum Genet , vol.91 , pp. 551-562
    • Ogata, T.1    Matsuo, N.2
  • 14
    • 0026651696 scopus 로고
    • Short stature in a girl with a terminal Xp deletion distal to DXYS15: Localization of a growth gene(s) in the pseudoautosomal region
    • Ogata T, Goodfellow P, Petit C, Aya M, Matsuo N. Short stature in a girl with a terminal Xp deletion distal to DXYS15: localization of a growth gene(s) in the pseudoautosomal region. J Med Genet 1992: 29: 455-459.
    • (1992) J Med Genet , vol.29 , pp. 455-459
    • Ogata, T.1    Goodfellow, P.2    Petit, C.3    Aya, M.4    Matsuo, N.5
  • 15
    • 0029126650 scopus 로고
    • Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15. Further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s)
    • Ogata T, Yoshizawa A, Muroya K, Matsuo N, Fukushima Y, Rappold G, Yokoya S. Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15. Further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s). J Med Genet 1995a: 32: 831-834.
    • (1995) J Med Genet , vol.32 , pp. 831-834
    • Ogata, T.1    Yoshizawa, A.2    Muroya, K.3    Matsuo, N.4    Fukushima, Y.5    Rappold, G.6    Yokoya, S.7
  • 17
    • 0018868560 scopus 로고
    • Observations in a case of an X;Y translocation, t (X;Y) (p22;q11), in a mother and son
    • Pfeiffer RA. Observations in a case of an X;Y translocation, t (X;Y) (p22;q11), in a mother and son. Cytogenet Cell Genet 1980: 26: 150-157.
    • (1980) Cytogenet Cell Genet , vol.26 , pp. 150-157
    • Pfeiffer, R.A.1
  • 18
    • 0027437257 scopus 로고
    • The pseudoautosomal regions of the human sex chromosomes
    • Rappold G. The pseudoautosomal regions of the human sex chromosomes. Hum Genet 1993: 92: 315-324.
    • (1993) Hum Genet , vol.92 , pp. 315-324
    • Rappold, G.1
  • 19
    • 0028941360 scopus 로고
    • Deletion mapping of stature determinants on the long arm of the Y chromosome
    • Salo P, Kääriäinen H, Page DC, de la Chapelle A. Deletion mapping of stature determinants on the long arm of the Y chromosome. Hum Genet 1995: 95: 283-286.
    • (1995) Hum Genet , vol.95 , pp. 283-286
    • Salo, P.1    Kääriäinen, H.2    Page, D.C.3    De la Chapelle, A.4
  • 22
    • 0028821351 scopus 로고
    • Presence of Y chromosome sequences and their effect on the phenotype of six patients with Y chromosome anomalies
    • Shankman S, Spurdle AB, Morris D, Rosendorff J, Marques I, Bernstein R, Ramsay M. Presence of Y chromosome sequences and their effect on the phenotype of six patients with Y chromosome anomalies. Am J Med Genet 1995: 55: 269-275.
    • (1995) Am J Med Genet , vol.55 , pp. 269-275
    • Shankman, S.1    Spurdle, A.B.2    Morris, D.3    Rosendorff, J.4    Marques, I.5    Bernstein, R.6    Ramsay, M.7
  • 23
    • 0021795677 scopus 로고
    • Detection at amniocentesis of a maternally inherited X;Y translocation
    • Speevak M, Clifford B, Cox DM, Hunter AGW. Detection at amniocentesis of a maternally inherited X;Y translocation. Clin Genet 1985: 27: 595-599.
    • (1985) Clin Genet , vol.27 , pp. 595-599
    • Speevak, M.1    Clifford, B.2    Cox, D.M.3    Hunter, A.G.W.4
  • 24
    • 0017759384 scopus 로고
    • Nullisomy for the distal portion of Xp in a male child with an X;Y translocation
    • Tiepolo L, Zuffardi O, Rodenwald A. Nullisomy for the distal portion of Xp in a male child with an X;Y translocation. Hum Genet 1977: 39: 277-281.
    • (1977) Hum Genet , vol.39 , pp. 277-281
    • Tiepolo, L.1    Zuffardi, O.2    Rodenwald, A.3
  • 25
    • 0020084308 scopus 로고
    • Cytogenetic studies in a Y-to-X translocation observed in three members of one family, with evidence of infertility in male carriers
    • Yamada K, Nanko S, Hattori S, Isusrugi K. Cytogenetic studies in a Y-to-X translocation observed in three members of one family, with evidence of infertility in male carriers. Hum Genet 1982: 60: 85-90.
    • (1982) Hum Genet , vol.60 , pp. 85-90
    • Yamada, K.1    Nanko, S.2    Hattori, S.3    Isusrugi, K.4
  • 26
    • 0026055785 scopus 로고
    • X;Y translocations resulting from recombination between homologous sequences on Xp and Yp
    • Yen PH, Tsai SP, Sharon L. X;Y translocations resulting from recombination between homologous sequences on Xp and Yp. Proc Natl Acad Sci 1991: 88: 8944-8948.
    • (1991) Proc Natl Acad Sci , vol.88 , pp. 8944-8948
    • Yen, P.H.1    Tsai, S.P.2    Sharon, L.3
  • 27
    • 0017258328 scopus 로고
    • High resolution of human chromosomes
    • Yunis JJ. High resolution of human chromosomes. Science 1976: 191: 1268-1270.
    • (1976) Science , vol.191 , pp. 1268-1270
    • Yunis, J.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.