Table 2. Copy number polymorphism of the SRY and DAZ genes in the Turner Syndrome patients.
ID | KARYOTYPE | SRY | DAZ | ||
ΔCt | COPIES | ΔCt | COPIES | ||
p2B | 45,XO 46,XX 46,XY | 1–3 | Mosaic | −1–0 | Mosaic |
p2C | NA | 0–1 | 1 | −1 | 4 |
p4 | 45,XO 46,XX 46,XY | 5–10 | mosaic | 0–1 | Mosaic |
p65971 | 46,XX 46,XY 46,XXXp | −3 | 16 | −2 | 8 |
F- p65971 | NA | 0 | 2 | −1 | 4 |
p6697 | NA | #Undt | 0 | Undt | 0 |
p65972 | NA | −3 | 16 | −0.5–(−1) | Mosaic |
p65975 | NA | −2 | 8 | −1 | 4 |
p17698 | NA | Undt | 0 | Undt | 0 |
AT1 | 46,XX (10):46,XY (75):45,XO (5):47,XXY (2):47,XYY(3) | −3 | 16 | −1–(−2) | Mosaic |
AT2 | 46,XX (77): 46,XY (6):45,XO (14): 47,XXX (3) | Undt | 0 | Undt | 0 |
AT3 | 46,XX (2):46,XY (3):45,XO (95) | Undt | 0 | Undt | 0 |
AT4 | 46,XX (0):46,XY (0):45,XO (100) | Undt | 0 | Undt | 0 |
AT5 | 46,XX (5):46,XY (0):45,XO (95) | Undt | 0 | Undt | 0 |
AT6 | 46,XX (0):46,XY (0):45,XO (100) | Undt | 0 | Undt | 0 |
AT7 | 46,XX (5):46,XY (0):45,XO (95) | Undt | 0 | Undt | 0 |
AT8 | 46,XX (5):46,XY (3):45,XO (92) | Undt | 0 | Undt | 0 |
AT9 | 46,XX (5):46,XY (5):45,XO (90) | Undt | 0 | Undt | 0 |
AT10 | 46,XX (5):46,XY (3):45,XO (92) | Undt | 0 | Undt | 0 |
AT11 | 46, XX (2):46, XY (2):45, XO (96) | Undt | 0 | Undt | 0 |
AT12 | 46, XX (5):46, XY (3):45, XO (92) | Undt | 0 | Undt | 0 |
AT13 | 46, XX (40):46, XY (30):45, XO (20) | Undt | 0 | Undt | 0 |
AT14 | 46,XX (5):46,XY (3):45,XO (92) | Undt | 0 | Undt | 0 |
AT15 | 46,XX (5):46,XY (80):45,XO (5):47,XXY (2):47,XYY(3) | −2 | 8 | −1–(0) | Mosaic |
NM | 46, XY | 1 | 1 | −1 | 4 |
NF | 46XX | Undt | 0 | Undt | 0 |
Numbers in parenthesis under karyotype denote percentage of the cells with the particular chromosomal constitution. Numbers in parenthesis under karyotype denote percentage of the cells with the particular chromosomal constitution. All the karyotypes were confirmed analyzing ∼400 metaphase chromosome sets per individual. # Undt” is for undetermined owing to high level of mosaicism.