Table 2 Details of the 21 rearrangements or mosaics detected by full karyotyping and subtelomeric MLPA
Karyotype on cultured cells | Sample type ** | Indication *** | MLPA results | |
|---|---|---|---|---|
P036-E2 | P070-B2 | |||
46,XX | Amnio | UA | Del 7q(VIPR2-3) | Del 7q(VIPR2-2) |
46,XY | Amnio | UA | Dup 16p(POLR3K-1) | Dup 16p(DECR2-9) |
46,XX | CB | UA | Del 11q(NCAPD3-2) | Del 11q(IGSF9B-20) |
| Â | Â | Â | Dup 9q(EHMT1-24) | Dup 9q(EHMT1-10) |
45,XX,psu dic(4;22)(p11;p11.2) | CB | UA | Del 4p(PIGG-7) | Del 4p(PIGG-8) |
46,XX,del (5)(p13) | CB | UA | Del 5p(PDCD6-6) | Del 5p(CCDC127-3) |
46,XX,del(10)(q26) | Amnio | PHGI | Del 10q(PAOX-3) | Del 10q(ECHS1-8) |
46,XX,del(18)(p10) | Amnio | IASR | Del 18p(USP14-7) | Del 18p(THOC1-21) |
46,XY,add(2) (q37) | Amnio | UA | Del 2q(CAPN10-3) | Del 2q(ATG4B-7) |
| Â | Â | Â | Dup 3p(CHL1-5) | Dup 3p(CHL1-3) |
46,XX,add(14) (q32) | Amnio | PTC | Dup 4q(TRIML2-2) | Dup 4q(FRG1-1) |
| Â | Â | Â | Del 14q(MTA1-8) | Del 14q(MTA1-7) |
46,XY,add(21) (q22) | CB | IASR | Dup 17q(TBCD-18) | Dup 17q(SECTM1-4) |
| Â | Â | Â | Del 21q(PRMT2-4) | Del 21q(S100B-2) |
46,XX,add(6)(q27) | Amnio | PHGI | Del 6q(PSMB1-5) | Del 6q(TBP-2) |
| Â | Â | Â | Dup 18p(USP14-7) | Dup 18p(THOC1-21) |
mos 47,XY,+mar[9]/46,XY[12] | Amnio | IASR’ | Dup 21q(RBM11-1) | Dup 21q(HSPA13-2) |
46,X,+mar | Amnio | IASR | Dup X/Yp(SHOX-4) | Dup X/Yp(SHOX-5) |
| Â | Â | Â | Del X/Yq(VAMP7-4) | Del X/Yq(VAMP7-8) |
| Â | Â | Â | Dup Yp(ZFY-4) | Dup Yq(DDX3Y-18) |
46,XN,inv(9)* | Amnio | IASR | Normal | Normal |
46,XX,inv(7)(q22q31)(mat) | Amnio | PHGI | Normal | Normal |
47,XX,+mar(pat) | Amnio | IASR | Normal | Normal |
mos 47,XX,+21[5]/46,XX[15] | Amnio | IASR | Normal | Normal |
mos 47,XX,+7[3]/46,XX,[17] | Amnio | IASR | Normal | Normal |
mos 45,X[6]/46,XY[17] | Amnio | HRA | Normal | Normal |