Chromosomal Defects

  • Enid Gilbert-Barness
  • Diane E. Spicer
  • Thora S. Steffensen


Chromosomal abnormalities represent the largest category of causes of death in humans. Abortuses that have reached a 2-week stage of development are estimated to have a 78 % rate of chromosomal abnormalities; however, this rate declines to 62 % for abortions occurring after the first missed menstrual period but before the 20th week. The proportion of fetuses with chromosomal defects drops continuously, with only 6 % of stillborn infants having a chromosome defect. The frequency of major chromosomal abnormalities in spontaneous abortions, the incidence in live-born infants, and the mechanism of chromosomal defects are discussed in this chapter.


Turner Syndrome Klinefelter Syndrome Gonadal Dysgenesis Ridge Count Chromosomal Defect 
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Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  • Enid Gilbert-Barness
    • 1
  • Diane E. Spicer
    • 2
  • Thora S. Steffensen
    • 3
  1. 1.Laboratory Medicine, Pediatrics and Obstetrics and Gynecology Tampa General Hospital Morsani College of MedicineUniversity of South FloridaTampaUSA
  2. 2.Department of Pediatrics-CardiologyUniversity of FloridaValricoUSA
  3. 3.Department of PathologyTampa General HospitalTampaUSA

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