Renal tubular abnormalities in a patient with the phenotypic appearance of C-trisomy mosaicism.
In 1971, SINHA et al. described a patient with isochromosomes arising from a C-group autosome. This patient had the phenotypic appearance of C-trisomy mosaicism. Six years later she presented with complaints of polydipsia and polyuria and was documented to have nephrogenic diabetes insipidus and renal tubular acidosis. The abnormal cell line of the patient had disappeared at the time of this observation.
D000141:Acidosis, Renal Tubular / Q000235:genetics*; D002648:Child; D002906:Chromosomes, Human, 6-12 and X; D003919:Diabetes Insipidus / Q000235:genetics*; D005260:Female; D006801:Humans; D009030:Mosaicism; D010641:Phenotype; D014314:Trisomy