Tissue limited mosaicism for unbalanced
โ
Robert L. Summitt; Avirachan T. Tharapel; Robert S. Wilroy
๐
Article
๐
1977
๐
Springer
๐
English
โ 790 KB
We studied a patient with a sporadic mental retardation/multiple congenital anomalies syndrome. Chromosome analysis showed a 46,XX, inv(9)(p 11;q13) karyotype in all lymphocytes. Fibroblasts from two separate skin biopsies revealed a mosaic karyotype. Some 22.5% of fibroblasts had a karyotype like t