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Table 1 Cytogenetic results for lymphocytes and skin fibroblasts from the index patient

From: Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22

Cell type/duration of culturing or passage number FISH
D14Z1/D22Z1×3 D14Z1/D22Z1×4 Total % of cells with monosomy 22
Lymphocytes/72 h 41 438 479 8.56
Fibroblasts/P1 27 86 113 23.89
  Metaphase analysis
Cell type/duration of culturing 45,XX,-22 46,XX,r(22) 46,XX,+mar Total % of cells with monosomy 22
Lymphocytes/72 h - 11 - 11 0
  1. Footnotes. D14Z1/D22Z1×3 – monosomy 14 or 22; D14Z1/D22Z1×4 – two chromosomes 14 and 22; P1 – first passage