Case Reports
doi: 10.1136/jmg.13.3.229.
Trisomy 8 restricted to cultured fibroblasts
- PMID: 180293
- PMCID: PMC1013398
- DOI: 10.1136/jmg.13.3.229
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Case Reports
Trisomy 8 restricted to cultured fibroblasts
J Med Genet.
1976 Jun.
Abstract
In the course of re-examing cultured fibroblasts stored in liquid nitrogen from a patient with developmental retardation, solitary left kidney, and Wilms tumour, a cell line trisomic for chromosome 8 was found. Trisomy 8 was restricted to fibroblasts in the first 22 subcultures and was absent in later passages as well as in lymphocytes. A familial pericentric inversion of chromosome 2 was observed in three generations including the propositus but was though to be unrelated to the clinical problem. Multiple spontaneous chromosomal rearrangements were seen in several late subcultures.
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