APPENDIX 1 EXAMPLES OF QST*R TRACES FROM RETROSPECTIVELY COLLECTED TISSUE SAMPLES AND AMNIOTIC FLUID SAMPLES FROM NGRL (WESSEX)
21 CQ320: Example of Normal Karyotype
22 Example of QST*R Trisomy report for Sample CQ320 (Normal)
23 Ret 14: Example of Trisomy 21
24 Example of QST*R Trisomy report for Sample ret 14 (Trisomy 21)
25 Ret 24: Example of Trisomy 18
26 Example of QST*R Trisomy report for ret 24 (Trisomy 18)
27 CQ230I: Example of Trisomy 13
28 Example of QST*R Trisomy report for Sample CQ230I (Trisomy 13)
29 CQ248: Example of Triploid
30 Example of QST*R Trisomy report for Sample CQ248 (Triploid)
31 APPENDIX 2 EXAMPLES OF QST*R TRACES FROM UNUSUAL PRENATAL SAMPLES SUBMITTED FROM OTHER UK LABORATORIES
32 Somatic microsatellite mutation at D21S11 Submicroscopic duplication at D13S634pat Primer binding site polymorphism at D18S391
33 BRL24: Example of female mole
34 BRL15: Example of a mosaic triploid sample
35 ABN 14: Example of maternal cell contamination supplied by lab1
36 BGH 5: Example of maternal cell contamination supplied by lab2
37 BRL 3: Example of a sample where some markers have amplified more efficiently than others – interestingly this is independent of the molecular weight of the marker products.
38 APPENDIX 3 EXAMPLES OF QST*R­XY TRACES FOR A VARIETY OF SEX CHROMOSOME ANEUPLOIDY
39 Ret 4: Example of a normal male
40 CQ651: Example of a normal female
41 Ret 18: Example of sample with a karyotype of 45,X
42 CQ600: Example of sample with a karyotype of 45,X where Y chromosome sequences (circled in red) have been amplified at a low level (c. 10%)
43 CQ449: Example of sample with a karyotype of 47,XXX
44 Ret 2: Example of sample with a karyotype of 47,XXY
45 Ret 10: Example of sample with a karyotype of 48,XXYY
46 Ret 85: Example of sample with a karyotype of 48,XXXY
47 Ret 5: Example of sample with a karyotype of 49,XXXXY
48 APPENDIX 4 Examples of QST*R­13, QST*R­18 and QST*R­21 traces
49 CQ348: Example of sample tested with QST*R­13
50 CQ250: Example of sample tested with QST*R­18
51 CQ546: Example of sample tested with QST*R­21
52