MGA2-11-31
Human medical cytogenetics:
Chromosomal syndromes in spontaneous abortions & live births

    At least 15% of all human conceptuses are aborted spontaneously in the first trimester. Half of these have detectable cytogenetic anomalies. About 0.6% of live births exhibit one of a variety of recognized cytogenetic syndromes. The most common are Klinefelter Syndrome (XYY males: 28% of total), Down Syndrome (trisomy of Chromosome 21: 20% of total), and Turner Syndrome (monosomy of the X chromosome in women: 8% of total). A large proportion of conceptuses with aneuploidy are aborted spontaneously: for Trisomy 21, the ratio is 3,510 : 1,041 in abortuses versus live births. The numbers are based on data from Sankaranarayanan (1979) and reflect ability to detect early spontaneous abortion at that time. More recent research based on earlier detection suggests that >30% of conceptuses are aborted spontaneously.

    Note on Names: The three syndromes mentioned are named after the physicians who first described them. Current practice recognizes that John Langdon Down neither had the syndrome nor owned it. It is thus incorrect to call it "Down's Syndrome" and the accepted term is "Down Syndrome". The same principle applies to other chromosomal syndromes.


Figure ©2002 by Griffiths et al.; all text material ©2024 by Steven M. Carr