Trisomy 3q : two clinically similar but cytogenetically different cases

The clinical and cytogenetic findings in two unrelated infants both trisomic for differing amounts of the long arm of chromosome 3 are described and discussed in relation to previously reported cases and the existence of a distinct syndrome of trisomy 3q is confirmed. Assignment of the gene for human red blood cell galactose-1-uridyltransferase is discussed.