Summary
Cytogenetic investigations have been carried out with particular concern to the frequency of chromosome abnormalities in newborn infants, and this is a preliminary report of data derived from 2,626 consecutive liveborns (1,393 males and 1,233 females) which were collected in one hospital. Of these, 18 infants (0.69%) were found to have a major chromosome abnormality. Eight infants (0.30%) showed sex-chromosome abnormalities: two with 47,XYY, one with 47,XXX, one with 45,X/47,XXX mosaicism, one with 46,XY/47,XYY mosaicism, one with 45,X/46,XX mosaicism, and a pair of twins with 45,X/46, XY/47,XYY mosaicism. Ten infants (0.38%) were carriers of autosomal abnormalities: three with 21-trisomy, one with 13-trisomy by translocation, three with a balanced 13/14 translocation, two with a balanced 14/22 translocation and one with an extra small marker chromosome. Of chromosomally abnormal infants, 14 were phyiscally normal.
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Maeda, T., Ohno, M., Takada, M. et al. A cytogenetic survey of consecutive liveborn infants-incidence and type of chromosome abnormalities. Jap J Human Genet 23, 217–224 (1978). https://doi.org/10.1007/BF01872471
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DOI: https://doi.org/10.1007/BF01872471
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