Human Heredity

 

Renal Tubular Abnormalities in a Patient with the Phenotypic Appearance of C-Trisomy Mosaicism

Hansen T.N. · Hill L.L. · Sinha A.K. · Pathak S.

Author affiliations

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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Hum Hered 1977;27:372–376

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Article / Publication Details

First-Page Preview
Abstract of Paper

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

First-Page Preview
Abstract of Paper

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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