Table 1.
List of the patients included and their previous cytogenetic analyses
| Patient | Phenotype | Karyotype | Array‐CGH (hg19) |
|---|---|---|---|
| 1 | ID | 46,X,t(X;13)(q22.1;q34) | Normal |
| 2 | Reproductive disorder | 46,XY,t(9;13)(p24.2;q21.31) | chr9:g.204193_2684272del, chr9:g.2776723_3569942dup, chr13:g.65531359_115092648dup |
| 3 | Reproductive disorder | 45,XX,rob(13;14)(q10;q10) | Normal |
| 4 | ID, MCA | CCR | chr4:g.171721989_174389351del, chr4:g.182302080_183383316del, chr14:g.23369663_24749573del |
| 5 | MCA | 46,XY | Two CNVs on chromosome X |
| 6 | ID | 46,XY,t(1;2)(p13.2;q31.2) | Normal |
| 7 | ID | 46,X,t(X;1)(p12;p36.1) | Normal |
| 8 | ID | 46,XY,t(3;22)(q13−21;p11) | Normal |
| 9 | ID, MCA | 46,XX,inv(3)(p13;p22),inv(3)(p12;q26.3) | Normal |
| 10 | ID | 46,XY,t(6;8;9;13)(q26;p23;p21;q21) | Normal |
| 11 | ID | 46,XX,18q+ | chr18:g.31180926_31524185dup, chr18:g.39792312_41221772dup, chr18:g.40402263_40695581dup, chr18:g.43260269_44649111dup, chr18:g.46904992_56897865dup, chr18:g.57914484_60052700dup, chr18:g.73242160_74477493del |
| 12 | Reproductive disorder | 46,XX,inv(3) | Normal |
| 13 | ID | 46,XX,t(9;17)(p13;q21) | Normal |
ID = intellectual disability, MCA = multiple congenital anomalies, NA = not available