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.

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*

*47, XXY

Polityko et al. Molecular Cytogenetics 2010 3:5   doi:10.1186/1755-8166-3-5