Contribution to the 18q- syndrome. A patient with del(18) (q22.3qter).
A patient with the typical features of the 18q- syndrome, but with the deletion restricted to the most distal part, bands q22.3----qter is reported. The cytogenetic finding is supported by a decrease in activity of the enzyme peptidase A.
D000015:Abnormalities, Multiple / Q000235:genetics*; D016282:Aspartic Acid Endopeptidases; D002675:Child, Preschool; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D010450:Endopeptidases / Q000235:genetics; D005124:Eye Abnormalities; D005260:Female; D006801:Humans; D013577:Syndrome
D010450:Endopeptidases; C022325:aspartic proteinase A; D016282:Aspartic Acid Endopeptidases