Human Heredity
Renal Tubular Abnormalities in a Patient with the Phenotypic Appearance of C-Trisomy MosaicismHansen T.N. · Hill L.L. · Sinha A.K. · Pathak S.Department of Pediatrics, Baylor College of Medicine, Texas Children’s Hospital, and University of Texas M. D. Anderson Hospital and Tumor Institute, Houston, Tex.
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Article / Publication Details
Published online: August 28, 2008
Issue release date: 1977
Number of Print Pages: 5
Number of Figures: 0
Number of Tables: 0
ISSN: 0001-5652 (Print)
eISSN: 1423-0062 (Online)
For additional information: https://www.karger.com/HHE
Abstract
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.
© 1977 S. Karger AG, Basel
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Article / Publication Details
Published online: August 28, 2008
Issue release date: 1977
Number of Print Pages: 5
Number of Figures: 0
Number of Tables: 0
ISSN: 0001-5652 (Print)
eISSN: 1423-0062 (Online)
For additional information: https://www.karger.com/HHE
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