MONOSOMY FOR A G AUTOSOME

An infant with autosomal mosaicism of the G group is reported. One cell line contained 45 chromosomes with a G group autosome missing The other contained 46, including a small chromosome of varying appearance. Comparison of the congenital abnormalities in this case with four other cases of similar karyotype suggests that they represent a syndrome. Features common to each case were the characteristic facies, generalized muscular hypertonia, and persistent vomiting. There was also a high incidence of pyloric stenosis.