Multiple Congenital Anomalies associated with a Partially Ring-shaped Chromosome probably derived from Chromosome No. 18 in Man

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.