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Table 2 The chromosomal aberrations per 100 peripheral blood lymphocytes of 48 h culture in P1 and P2, and their parents using the M-FISH approach.

From: Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder delineation?

Chromosomal abnormalities per 100 cells Patient P1 Patient P2 Mother Father
Total number of aberrant metaphases 59 36 5 11
Total number of aberrations 90 43 7 13
Specific centromere-region aberrations 24 17 3 4
Spectrum of chromosomal aberrations
Isochromosomes 4 2 - 1
Whole arm duplication 4 1 - -
Centromeric breaks 10 11 2 2
Chromatine despiralizations/fragmentations 6 3 1 1
Translocations, inversions 5 2 - 1
Dicentric/ring chromosomes 9 3 - 1
Chromosome deletions, acentrics 28 11 1 5
Chromatide deletions 8 6 2 1
Chromosome exchanges 5 - - -
Telomeric junctions 1 1 - -
Aneuploid/polyploid cells with marker chromosomes 10 3 1 1*
  1. *47, XXY