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Table 1 Markers from QF-PCR showing the suspected trisomy 21 in mosaic form in the analysis of the chorionic villus sampling and the maternal origin of the aberrant chromosome 21

From: Discordant structural chromosomal aberrations in chorionic villi and amniotic fluid leading to a formation of an isochromosome 21: a case report

Marker Chorionic villus sampling Amniocentesis Maternal blood
D21S1435 (ratio) 185/189 (1:1.3) 185/189 (1:1.8) 185/189
D21S11 (ratio) 250/252 (1.5:1) 250/252 (1.9:1) 250/260
D21S1270 (ratio) 311 & 313/319 & 322 (1:1.1) 311 & 313/319 & 322 (1:1.7) 299 & 301/319 & 322
D21S1411 (ratio) 317/330 (1.5:1) 317/330 (2.2:1) 317/322
  1. Seven additional markers (D21S1437, D21S1409, D21S1442, D21S1280, D21S1444, D21S1246 and D21S1446) of chromosome 21, which were performed on the chorionic villi, demonstrated ratios between 1:1.3 and 1:1.5
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Molecular Cytogenetics

ISSN: 1755-8166