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  • Title: Isochromosome-formation in chromosome 9.
    Author: Miller K, Arslan-Kirchner M.
    Journal: Ann Genet; 1994; 37(2):78-81. PubMed ID: 7985983.
    Abstract:
    A new case of de novo isochromosome-formation in chromosome 9 associated with the translocation of long arm material of chromosome 9 onto chromosome 1 is described. The female patient is mentally retarded and shows only minor dysmorphisms. The cytogenetic investigation revealed a two-cell-line mosaicism with different isochromosomes of chromosome 9. In both cell lines, a translocation of 9qter-9q13 onto the short arm of chromosome 1 is observed.
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