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Klinefelter’s Syndrome in Prenatal Diagnosis: Incidence and Consequences for Genetic Counselling

  • J. Murken
  • S. Stengel-Rutkowski

Abstract

Prenatal diagnosis offers the possibility of ascertaining distinct genetic defects through the analysis of fetal cells obtained by amniocentesis. The amniotic fluid is withdrawn in the 16th or 17th gestational week through a transabdominal tap. The fetal cells in the sample are cultivated over 2 weeks and chromosomal preparations (or metabolic tests) are performed using standard methods.

Keywords

Genetic Counselling Amniotic Fluid Prenatal Diagnosis Fetal Cell Amniotic Fluid Sample 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. Carothers AD, Collyer S, De Mey R et al. (1978) Parental age and birth order in the aetiology of some sex chromosome aneuploidies. Ann Hum Genet 41:277–287PubMedCrossRefGoogle Scholar
  2. Hook EB, Cross PK, Schreinemacher DM (1983) Chromosomal abnormality rates at amiocen-tesis and in live-born infants. JAMA 249:2034–2038PubMedCrossRefGoogle Scholar
  3. Murken JD (1973) The XYY-syndrome and Klinefelter’s syndrome. Investigations into epidemiology, clinical picture, psychology, behaviour and genetics. Thieme, StuttgartGoogle Scholar
  4. Nielsen J, Sillesen I, Sørensen K (1979) Follow-up until age 4 to 8 of 25 unselected children with sex chromosome abnormalities, compared with sibs and controls. In: Robinson A, Lubs HA, Bergsma D (eds) Sex chromosome aneuploidy: Prospective studies on children. Birth Defects XV(I)Google Scholar
  5. Stengel-Rutkowski S, Murken JD (to be published) Prenatal diagnosis of genetic defects. Documentation of the West German Collaborative Study of the Deutsche Forschungsgemeinschaft (DFG)Google Scholar

Copyright information

© Springer-Verlag Berlin · Heidelberg 1984

Authors and Affiliations

  • J. Murken
    • 1
  • S. Stengel-Rutkowski
    • 1
  1. 1.Abteilung für Pädiatrische GenetikKinderpoliklinik der Universität MünchenMünchen 2Germany

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