Summary
A survey of the birth prevalence of congenital malformation syndromes and chromosomal abnormalities among newborn infants in Tokyo is reported. Of 22,063 consecutive newborn infants (11,348 male, 10,715 female), 51 had multiple congenital malformation syndromes. These included 3 with trisomy 13, 4 with trisomy 18, 24 with Down syndrome, 2 with cri-du-chat syndrome, 1 with 5p partial trisomy, 1 with 10p partial monosony, 1 with 4p partial monosomy, 1 with Hallermann-Streiff syndrome, 1 with Treacher-Collins syndrome, 2 with achondroplasia, 2 with arthrogryposis, 2 with hemihypertrophy, 1 with Wiedemann-Beckwith syndrome, 1 with asplenia, 1 with Klippel-Trenaunay-Weber syndrome, 1 with Marfan syndrome, 1 with Carpenter syndrome, 1 with Goldenhar syndrome, and 1 with aberrant tissue syndrome.
Of 6,977 phenotypically normal male babies, 6 were XYY individuals and 2 had Klinefelter syndrome; of 2,633 phenotypically female babies, one had Turner syndrome and one was triple X.
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Higurashi, M., Iijima, S., Takeshita, T. et al. Incidence of malformation syndromes and chromosomal abnormalities in 22,063 newborn infants in Tokyo. Jap J Human Genet 30, 1–8 (1985). https://doi.org/10.1007/BF01883667
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DOI: https://doi.org/10.1007/BF01883667
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