[A child with a ring 18 chromosome : 46,XX,r(18) and a decreased enzymatic activity of erythrocyte peptidase A (author's transl)].
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000097:blood / Q000235:genetics*; D025063:Chromosome Disorders; D002902:Chromosomes, Human, 16-18; D004150:Dipeptidases / Q000097:blood; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D014960:X Chromosome
D004150:Dipeptidases; C031499:CNDP2 protein, human
Anomalie constitutionnelle du chromosome 18 : 46,XX,r(18). Diminution de l'activité de la peptidase A érythrocytaire.