Trisomy 8 restricted to cultured fibroblasts.
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.
D002478:Cells, Cultured; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D005347:Fibroblasts; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic; D014314:Trisomy; D009396:Wilms Tumor / Q000235:genetics