Skip to main content

Table 2 FA-D2 patients’ karyotypes and molecular cytogenetic findings

From: First molecular-cytogenetic characterization of Fanconi anemia fragile sites in primary lymphocytes of FA-D2 patients in different stages of the disease

 

FA-D2 patient

Age (years)

Karyotype

Most frequent breakpoints

Fragile site (FS)

Breakpoint frequency (%)

Telomere fusion frequency (%)

Average telomere length (RTLUa ± SD)

Radial figures frequency (%)

Group A

1

8

46,XX

1q42.2

distal to FRA1H

1.72

1.95

14.76 ± 3.23

7.06

14q24.3

FRA14G

3.09

18q21.3

FRA18B

1.72

2

6

46,XX

2q35

FRA2U

2.4

1.54

23.02 ± 12.73

1.78

3p14.2

FRA3B

2.4

5q33.2

FRA5O

2

7q32.3

FRA7H

1.6

3

17

46,XX

3q27.1

FRA3C

2.75

1.62

35.72 ± 7.00

1.88

5q13.2

FRA5K

2.75

5q33.2

FRA5O

3.29

Group B

4

3

46,XX

3p14.2

FRA3B

11.07

0.08

20.48 ± 12.24

0.78

3p21.31

FRA3H

3.95

7q32.3

FRA7H

1.19

5

3

46,XX,der(21)t(15;21)(q15;p11.1)[5]/46,XX [15]

1p13

FRA1N

1.76

0.72

21.01 ± 10.33

0.715

1q21

FRA1F

1.32

3p21.31

FRA3H

1.32

11q13

FRA11H

0.88

6

11

46, XY, der(16)t(1;16)(q42;p11.2)del(1) (q42)[1]/46,XY[31]

3p14.2

FRA3B

1.88

0.23

23.91 ± 6.92

0.23

3p21.31

FRA3H

0.63

16q22.1

FRA16C

1.88

16q23

FRA16D

6.88

  1. aRTLU–relative telomere length units