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Volumn 312, Issue 7022, 1996, Pages 16-21

Prenatal and postnatal prevalence of Turner's syndrome: A registry study

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMNIOCENTESIS; ARTICLE; CHILD; CHORION VILLUS SAMPLING; CHROMOSOME ABERRATION; FEMALE; GENETIC RISK; HUMAN; INFANT; KARYOTYPE; KARYOTYPING; MAJOR CLINICAL STUDY; MATERNAL AGE; MOSAICISM; PREGNANCY; PRENATAL DIAGNOSIS; PREVALENCE; PRIORITY JOURNAL; REGISTER; TURNER SYNDROME; ULTRASOUND;

EID: 0030034016     PISSN: 09598146     EISSN: None     Source Type: Journal    
DOI: 10.1136/bmj.312.7022.16     Document Type: Article
Times cited : (167)

References (32)
  • 2
    • 0020634258 scopus 로고
    • The distribution of chromosomal genotypes associated with Turner's syndrome: Livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism
    • Hook EB, Warburton D. The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism. Hum Genet 1983;64:24-7.
    • (1983) Hum Genet , vol.64 , pp. 24-27
    • Hook, E.B.1    Warburton, D.2
  • 3
    • 0025921769 scopus 로고
    • Chromosome abnormalities found among 34,910 newborn children: Results from a 13-year incidence study in Arhus, Denmark
    • Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet 1991;87:81-3.
    • (1991) Hum Genet , vol.87 , pp. 81-83
    • Nielsen, J.1    Wohlert, M.2
  • 4
    • 9044238647 scopus 로고
    • Prevalence of Turner syndrome in Japan
    • Hibi I, Takano K, eds. Amsterdam: Excerpta Medica
    • Imaizumi K, Kuroki Y. Prevalence of Turner syndrome in Japan. In: Hibi I, Takano K, eds. Basic and clinical approach to Turner syndrome. Amsterdam: Excerpta Medica, 1993:3-6.
    • (1993) Basic and Clinical Approach to Turner Syndrome , pp. 3-6
    • Imaizumi, K.1    Kuroki, Y.2
  • 5
    • 0028214487 scopus 로고
    • Turner's syndrome in Italy: Familial characteristics, neonatal data, standards for birth weight and for height and weight from infancy to adulthood
    • Bernasconi S, Larizza D, Benso L, Volta C, Vannelli S, Milani S, et al. Turner's syndrome in Italy: familial characteristics, neonatal data, standards for birth weight and for height and weight from infancy to adulthood. Acta Paediatr 1994;83:292-8.
    • (1994) Acta Paediatr , vol.83 , pp. 292-298
    • Bernasconi, S.1    Larizza, D.2    Benso, L.3    Volta, C.4    Vannelli, S.5    Milani, S.6
  • 7
    • 0018736046 scopus 로고
    • Inverse maternal age effect in monosomy X
    • Kajii T, Ohama K. Inverse maternal age effect in monosomy X. Hum Genet 1979;51:147-51.
    • (1979) Hum Genet , vol.51 , pp. 147-151
    • Kajii, T.1    Ohama, K.2
  • 8
    • 0018917387 scopus 로고
    • Monosomy X: A chromosomal anomaly associated with young maternal age
    • Warburton D, Kline J, Stein Z, Susser M. Monosomy X: a chromosomal anomaly associated with young maternal age. Lancet 1980;i:167-9.
    • (1980) Lancet , vol.1 , pp. 167-169
    • Warburton, D.1    Kline, J.2    Stein, Z.3    Susser, M.4
  • 10
    • 0023905065 scopus 로고
    • 45,X/46,XY mosaicism: Contrast of prenatal and postnatal diagnosis
    • Wheeler M, Peakman D, Robinson A, Henry G. 45,X/46,XY mosaicism: contrast of prenatal and postnatal diagnosis. Am J Med Genet 1988;9:565-71.
    • (1988) Am J Med Genet , vol.9 , pp. 565-571
    • Wheeler, M.1    Peakman, D.2    Robinson, A.3    Henry, G.4
  • 11
    • 0025177372 scopus 로고
    • The phenotype of 45,X/46,XY mosaicism: An analysis of 92 prenatally diagnosed cases
    • Chang HJ, Clark RD, Bachman H. The phenotype of 45,X/46,XY mosaicism: an analysis of 92 prenatally diagnosed cases. Am J Hum Genet 1990;46:156-67.
    • (1990) Am J Hum Genet , vol.46 , pp. 156-167
    • Chang, H.J.1    Clark, R.D.2    Bachman, H.3
  • 13
    • 0024817810 scopus 로고
    • The natural history of cytogenetically abnormal fetuses detected at midtrimester amniocentesis which are not terminated electively: New data and estimates of the excess and relative risk of late fetal death associated with 47,+21 and some other abnormal karyotypes
    • Hook EB, Topol BB, Cross PK. The natural history of cytogenetically abnormal fetuses detected at midtrimester amniocentesis which are not terminated electively: new data and estimates of the excess and relative risk of late fetal death associated with 47,+21 and some other abnormal karyotypes. Am J Hum Genet 1989;45:855-61.
    • (1989) Am J Hum Genet , vol.45 , pp. 855-861
    • Hook, E.B.1    Topol, B.B.2    Cross, P.K.3
  • 14
    • 0026531326 scopus 로고
    • Mosaicism in 45,X Turner syndrome: Does survival in early pregnancy depend on the presence of two sex chromosomes?
    • Held KR, Kerber S, Kaminsky E, Singh S, Goetz P, Seemanova E, et al. Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes? Hum Genet 1992;88:288-94.
    • (1992) Hum Genet , vol.88 , pp. 288-294
    • Held, K.R.1    Kerber, S.2    Kaminsky, E.3    Singh, S.4    Goetz, P.5    Seemanova, E.6
  • 15
    • 0026657024 scopus 로고
    • Evidence for decreasing quality of semen during past 50 years
    • Carlsen E, Giwercman A, Keiding N, Skakkebaek NE. Evidence for decreasing quality of semen during past 50 years. BMJ 1992;305:609-13.
    • (1992) BMJ , vol.305 , pp. 609-613
    • Carlsen, E.1    Giwercman, A.2    Keiding, N.3    Skakkebaek, N.E.4
  • 17
    • 0023577485 scopus 로고
    • The effect of age on the frequency of sperm chromosomal abnormalities in normal men
    • Martin RH, Rademaker AW. The effect of age on the frequency of sperm chromosomal abnormalities in normal men. Am J Hum Genet 1987;41:484-92.
    • (1987) Am J Hum Genet , vol.41 , pp. 484-492
    • Martin, R.H.1    Rademaker, A.W.2
  • 18
    • 0023930140 scopus 로고
    • Cytogenetic and molecular analysis of sex-chromosome monosomy
    • Hassold T, Benham F, Leppert M. Cytogenetic and molecular analysis of sex-chromosome monosomy. Am J Hum Genet 1988;42:534-41.
    • (1988) Am J Hum Genet , vol.42 , pp. 534-541
    • Hassold, T.1    Benham, F.2    Leppert, M.3
  • 21
    • 0025281555 scopus 로고
    • Study of the parental origin of sexual aneuploidy in ten families using RFLPs
    • Villamar M, Fernandez E, Ayuso C, Ramos C, Benitez J. Study of the parental origin of sexual aneuploidy in ten families using RFLPs. Ann Genet 1990;33:29-31.
    • (1990) Ann Genet , vol.33 , pp. 29-31
    • Villamar, M.1    Fernandez, E.2    Ayuso, C.3    Ramos, C.4    Benitez, J.5
  • 23
    • 0026578519 scopus 로고
    • Molecular study of 45,X conceptuses: Correlation with clinical findings
    • Lorda-Sanchez I, Binkert F, Maechler M, Schinzel A. Molecular study of 45,X conceptuses: correlation with clinical findings. Am J Med Genet 1992;42:487-90.
    • (1992) Am J Med Genet , vol.42 , pp. 487-490
    • Lorda-Sanchez, I.1    Binkert, F.2    Maechler, M.3    Schinzel, A.4
  • 24
    • 0029042695 scopus 로고
    • Parental origin of the X chromosome, X chromosome mosaicism and screening for "hidden" Y chromsome in 45,X Turner syndrome ascertained cytogenetically
    • Larsen T, Gravholt CH, Tillebeck A, Larsen H, Jensen MB, Nielsen J, et al. Parental origin of the X chromosome, X chromosome mosaicism and screening for "hidden" Y chromsome in 45,X Turner syndrome ascertained cytogenetically. Clin Genet 1995;48:6-11.
    • (1995) Clin Genet , vol.48 , pp. 6-11
    • Larsen, T.1    Gravholt, C.H.2    Tillebeck, A.3    Larsen, H.4    Jensen, M.B.5    Nielsen, J.6
  • 25
    • 0025990010 scopus 로고
    • Chromosomal mosaicism: A follow-up study of 39 unselected children found at birth
    • Gravholt CH, Friedrich U, Nielsen J. Chromosomal mosaicism: a follow-up study of 39 unselected children found at birth. Hum Genet 1991;88:49-52.
    • (1991) Hum Genet , vol.88 , pp. 49-52
    • Gravholt, C.H.1    Friedrich, U.2    Nielsen, J.3
  • 26
    • 0024372066 scopus 로고
    • Prenatal diagnosis of 45,X/46,XX mosaicism in the fetus. Should the pregnancy be terminated?
    • Kulkarni R, Hawkins J, Bradford WP. Prenatal diagnosis of 45,X/46,XX mosaicism in the fetus. Should the pregnancy be terminated? Prenat Diagn 1989;9:439-41.
    • (1989) Prenat Diagn , vol.9 , pp. 439-441
    • Kulkarni, R.1    Hawkins, J.2    Bradford, W.P.3
  • 27
    • 0025422427 scopus 로고
    • Sex chromosome mosaicism not detected at amniocentesis
    • Roland B, Cox DM, Rudd NL. Sex chromosome mosaicism not detected at amniocentesis. Prenat Diagn 1990;10:333-6.
    • (1990) Prenat Diagn , vol.10 , pp. 333-336
    • Roland, B.1    Cox, D.M.2    Rudd, N.L.3
  • 28
    • 0024343937 scopus 로고
    • Chromosome mosaicism of the placenta - A cause of developmental failure of the fetus?
    • Schwinger E, Seidl E, Klink F, Rehder H. Chromosome mosaicism of the placenta - a cause of developmental failure of the fetus? Prenat Diagn 1989;9:639-47.
    • (1989) Prenat Diagn , vol.9 , pp. 639-647
    • Schwinger, E.1    Seidl, E.2    Klink, F.3    Rehder, H.4
  • 29
    • 0024342350 scopus 로고
    • Resorbed co-twin as an explanation for discrepant chorionic villus results: Non-mosaic 47,XX,+16 in villi (direct and culture) with normal (46,XX) amniotic fluid and neonatal blood
    • Tharapel AT, Elias S, Shulman LP, Seely L, Emerson DS, Simpson JL. Resorbed co-twin as an explanation for discrepant chorionic villus results: non-mosaic 47,XX,+16 in villi (direct and culture) with normal (46,XX) amniotic fluid and neonatal blood. Prenat Diagn 1989;9:467-72.
    • (1989) Prenat Diagn , vol.9 , pp. 467-472
    • Tharapel, A.T.1    Elias, S.2    Shulman, L.P.3    Seely, L.4    Emerson, D.S.5    Simpson, J.L.6
  • 30
    • 0024539382 scopus 로고
    • The dilemma of chromosomal mosaicism in chorionic villus sampling - 'direct' versus long-term cultures
    • Nisani R, Chemke J, Voss R, Appelman Z, Caspi B, Lewin A, et al. The dilemma of chromosomal mosaicism in chorionic villus sampling - 'direct' versus long-term cultures. Prenat Diagn 1989;9:223-6.
    • (1989) Prenat Diagn , vol.9 , pp. 223-226
    • Nisani, R.1    Chemke, J.2    Voss, R.3    Appelman, Z.4    Caspi, B.5    Lewin, A.6
  • 31
    • 0024616039 scopus 로고
    • False-positive and false-negative cytogenetic findings on chorionic villus sampling letter
    • Tomkins DJ, Vekemans MJ. False-positive and false-negative cytogenetic findings on chorionic villus sampling letter. Prenat Diagn 1989;9:139-40.
    • (1989) Prenat Diagn , vol.9 , pp. 139-140
    • Tomkins, D.J.1    Vekemans, M.J.2
  • 32
    • 0025779063 scopus 로고
    • Mosaicism and accuracy of prenatal cytogenetic diagnoses after chorionic villus sampling and placental biopsies
    • Miny P, Hammer P, Gerlach B, Tercanli S, Horst J, Holzgreve W, et al. Mosaicism and accuracy of prenatal cytogenetic diagnoses after chorionic villus sampling and placental biopsies. Prenat Diagn 1991;11:581-9.
    • (1991) Prenat Diagn , vol.11 , pp. 581-589
    • Miny, P.1    Hammer, P.2    Gerlach, B.3    Tercanli, S.4    Horst, J.5    Holzgreve, W.6


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