Table 6.
Three years of cytogenetics in the Dominican Republic: an update from 2013 to 2015a
| Number of cases | 601 cases |
|---|---|
| Tissue culture from product of conception: 56 | |
| Negative | 27 |
| Positive | 20 |
| No growth | 9 |
| Trisomy 16 | 5 |
| Trisomy 15 | 3 |
| Trisomy 13 and Trisomy 21 | 2 each |
| Trisomies 7, 14, 22 | One of each |
| 45 X | 3 |
| Amniotic fluid culture: 36 | |
| Negative | 27 |
| Positive | 9 |
| Trisomy 21 | 4 |
| Trisomies 13 and 18 | One of each |
| 46,XX,7q+ | 1 |
| 46,XY,t(8;20)(22q;11q)mat | 1 |
| 46,XY,inv(9)(p13q13) | 1 |
| Peripheral blood: 495 | |
| Negative | 412 |
| Positive | 84 |
| Down syndrome | 21 |
| Turner syndrome | 3 |
| Edward syndrome | 1 |
| Klinefelter syndrome | 2 |
| 46, XY or XX, inversion chromosome 9 | 6 |
| 47,XY or XX, inversion 9 + extra chromosome | 3 |
| 46,XY,inv(2) (p11q13) | 1 |
| 46,XX,22p‐ | 1 |
| 46,XY,rob(14;21)(q10;q10) | 1 |
| 46,XX,t(3;4)(p12q13) | 1 |
| Mosaicism | 5 |
| Ring chromosome | 3 |
| 46 XX with male phenotype | 1 |
| 46 XY with female phenotype | 1 |
| Bone Marrow: 1 | |
| 46,XX,t(9;22)(q34;q13) | 1 |
| FISH: 3 | |
| Negative | 2 |
| Positive | 1 |
| Deletion for prader–willi syndrome | 1 |
| Samples for gene testing: 9 | |
| Negative | 8 |
| Positive | 1 |
| Prader–Willi syndrome uniparental disomy | 1 |
| Negative samples tested for fragile X syndrome (6 cases), Neurofibromatosis type 1 (1 case) and Prader–Willi syndrome (1 case) | |
a
Results shown are the most significant findings. Sex of the cases was not taken into consideration for this table, but the information is available.