Table 1 Karyotyping and subtelomeric MLPA results for the 23 fetuses with aneuploidy
Karyotype | Cases | MLPA results* | |
|---|---|---|---|
P036-E2 | P070-B2 | ||
Trisomy 21 | 12 | Dup 21p(RBM11-1) | Dup 21q(HSPA13-2) |
| Â | Â | Dup 21q(PRMT2-4) | Dup 21q(S100B-2) |
Trisomy 18 | 4 | Dup 18p(USP14-7) | Dup 18p(SECTM1-21) |
| Â | Â | Dup 18q(RBFA-4) | Dup 18q(THOC1-9) |
Trisomy 13 | 1 | Dup 13q(PSPC1-2) | Dup 13q(PSPC1-1) |
| Â | Â | Dup 13q(F7-6) | Dup 13q(CDC16-8) |
Monosomy X | 2 | Del X/Yp(SHOX-4) | Del X/Yp(SHOX-5) |
| Â | Â | Del X/Yq(VAMP7-4) | Del X/Yq(VAMP7-8) |
47,XXX | 1 | Dup X/Yp(SHOX-4) | Dup X/Yp(SHOX-5) |
| Â | Â | Dup X/Yq(VAMP7-4) | Dup X/Yq(VAMP7-8) |
47,XXY | 2 | Dup X/Yp(SHOX-4) | Dup X/Yp(SHOX-5) |
| Â | Â | Dup X/Yq(VAMP7-4) | Dup X/Yq(VAMP7-8) |
| Â | Â | One copy of Yp(ZFY-4) | One copy of Yq(DDX3Y-18) |
47,XYY | 1 | Dup X/Yp(SHOX-4) | Dup X/Yp(SHOX-5) |
| Â | Â | Dup X/Yq(VAMP7-4) | Dup X/Yq(VAMP7-8) |
| Â | Â | Dup Yp(ZFY-4) | Dup Yq(DDX3Y-18) |