Prenatal diagnosis of a true mosaic trisomy 20 substantiated by demonstration of a gene dosage effect for adenosine deaminase (ADA).
Fibroblasts from a fetus with the prenatal diagnosis of mosaic trisomy 20 were cloned by dilution plating. Adenosine deaminase (ADA), a biochemical marker for chromosome 20, was assayed in trisomic clones and normal clones as control. The cytogenetic diagnosis was substantiated by demonstration of a triplex gene dosage effect for ADA in the trisomic cells.
D000015:Abnormalities, Multiple / Q000235:genetics; D000243:Adenosine Deaminase / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002903:Chromosomes, Human, 19-20; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D009030:Mosaicism; D009700:Nucleoside Deaminases / Q000235:genetics*; D011247:Pregnancy; D014314:Trisomy
D009700:Nucleoside Deaminases; D000243:Adenosine Deaminase