Abstract
WHILE cases of autosomal trisomy of the D (Nos. 13–15) and the E (Nos. 16–18) group of human chromosomes apparently are not too uncommon, structural anomalies of these chromosomes, including cases of translocation, are, to our knowledge, still very infrequent1. During the past two years some cases of multiple congenital malformations showing an abnormal ring-shaped autosome have been published, in which one autosome of the chromosome group Nos. 13–15 (refs. 2 and 3) or of the group Nos. 16–18 (refs. 2, 4 and 5) is missing. Self-perpetuating ring chromosomes have also been described somewhat earlier as probably derived from the X chromosome6 and from an autosome (?) of the C group7. We wish to report the findings in a male child with multiple malformations, in whom a chromosomal study revealed an abnormal autosome combined with the lack of one of the group E chromosomes, probably a chromosome No. 18.
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References
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GROPP, A., JUSSEN, A. & OFTERINGER, K. Multiple Congenital Anomalies associated with a Partially Ring-shaped Chromosome probably derived from Chromosome No. 18 in Man. Nature 202, 829–830 (1964). https://doi.org/10.1038/202829a0
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DOI: https://doi.org/10.1038/202829a0
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