The trisomy 18 syndrome with an E/G translocation.
An infant with a typical Edwards syndrome and a modal chromosome number of 46 is reported. In all cells analyzed one chromosome G was missing and an additional chromosome similar to a pair No. 16 was present. The phenotype of the child indicates that the extra element is a translocation between G and 18 chromosomes as in one case described previously.
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations; D002902:Chromosomes, Human, 16-18; D002904:Chromosomes, Human, 21-22 and Y; D005260:Female; D006801:Humans; D007223:Infant; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy