Table 1.
Study ID | Sex | Age | FA subtype | Ethnicity/Origin | Aplastic anemia | Cytogenetic clone | Karyotype in BM | Peripheral blood T-cell mosaicism |
---|---|---|---|---|---|---|---|---|
1 | F | 8.2 | FANCA | Mexican mestizo | No aplastic anemia | No | 44,XX,t(4;13)(q34;q1 2.1),−20,22[1]/45,XX,- 5[1]/44,XX,−5,- 15[1]/43,XX,−6,−14,- 15[1]/45,XX,- 9[1]/46,XX,inv(9)(p11 q12)[1]/45,XX,10[1]/44,XX,−11,- 22[1]/44,XX,−12,20[1]/46,XX,inv(18)(p 11.2q12.2[1]/46,XX [10] | No |
2 | M | 17.8 | Unknown | Mexican mestizo | No aplastic anemia | Yes | 45,XY,- 16[3]/46,XY[12] | No |
3 | M | 10.3 | FANCA | No aplastic anemia | No | 46,XY[20] | Yes | |
4 | M | 2.7 | FANCC | Arabic | No aplastic anemia | No | 46,XY[20] | Yes |
5 | F | 3.1 | FANCC | White | Mild aplastic anemia | No | 46,XX[20] | No |
6 | F | 12.0 | FANCC | Arabic | Mild aplastic anemia | Yes | 46,XX,del(7)(q31q 36)[5]/46,XX [15]. FISH: del7q (19.5% of cells) | Yes |
7 | M | 7.8 | FANCC | Arabic | Mild aplastic anemia | No | 46,XY[20] | Yes |
8 | M | 26.5 | FANCA | White | Mild aplastic anemia | Yes | 46,XY,dup(12)(q1 5q13)[6]/ 46,XY[14] | No |
9 | M | 9.2 | FANCC | Mild aplastic anemia | Yes | 46,XY. FISH: del13q (35.5% of cells) | No | |
10 | F | 6.9 | FANCA | Mexican mestizo | Mild aplastic anemia | No | 46,XX [20] | No |
11 | M | 8.6 | Unknown | White | Moderate aplastic anemia | No | 46,XY[20] | No |
12 | F | 10.9 | FANCA | Mexican mestizo | Moderate aplastic anemia | No | 46,XX [20] | No |
13 | F | 15.4 | Unknown | Mexican mestizo | Severe aplastic anemia | Yes | 45,XX- 7[10]/46,XX[10] | No |
14 | F | 8.3 | FANCG | Mexican mestizo | Severe aplastic anemia | No | 46,XX [20] | No |
15 | F | 12.0 | Unknown | Mexican mestizo | Severe aplastic anemia | Unknown | No growth | No |
16 | M | 10.2 | Unknown | Mexican mestizo | Severe aplastic anemia | No | 45,XY,- 2[1]/45,XY,−18[1]/ 46,XY[18] | No |
17 | F | 8.8 | Unknown | Mexican mestizo | Severe aplastic anemia | No | 46,XX [20] | No |
18 | M | 8.2 | Unknown | Mexican mestizo | Severe aplastic anemia | No | 46,XY[20] | No |
19 | M | 8.6 | FANCA | Mexican mestizo | Severe aplastic anemia | No | No clone detected by FISH | No |
20 | M | 10.1 | FANCA | Mexican mestizo | Severe aplastic anemia | No | No clone detected by FISH | No |
21 | M | 5.6 | Unknown | Mexican mestizo | Severe aplastic anemia | No | No clone detected by FISH | No |