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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002900:Chromosomes, Human, 1-3; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D014314:Trisomy; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics
D005694:UTP-Hexose-1-Phosphate Uridylyltransferase