Table 3 Imbalances <10 Mb identified by array CGH. Imbalance considered to be the cause of pregnancy loss or fetal abnormality are shown in normal text
Imbalance | No | Size (Mb) | Parental follow-up |
|---|---|---|---|
Williams del OMIM 194050 | 1 | 1.442 | NR |
Di-George del OMIM 188400 | 3 | 2.544–2.901 | 3 DN, 1 NR |
Williams del OMIM 194050 and Di-George del OMIM 188400 | 1 | 1.416, 0.365 | DN/pat |
Cat Eye and VOUS OMIM 115470 | 1 | 0.524, 2.588 | mat/pat |
Miller-Dieker del OMIM 247200 | 1 | 6.500 | mat |
Mowat-Wilson del OMIM 235730 | 1 | 1.048 | NR |
Wolf-Hirschhorn del OMIM 194190 | 1 | 1.807 | NR |
RCAD del OMIM 137920 | 2 | 1.723 | DN |
1q21.1 dup syndrome OMIM 612475 | 1 | 1.746 | NR |
Saethre-Chotzen del OMIM 101400 | 1 | 5.590 | NR |
Translocation 5q35.3 15q26.3 | 1 | 3.083, 3.088 | pat |
Inv dup del 2q37.1 2q37.3 | 1 | 0.670, 8.726 | NA |
Complex imbalance 4p15.1 4q12 4q21.1 | 1 | 1.810, 7.528, 1.456 | DN |
Complex imbalance 22q12.3q13 | 1 | 0.931, 5.332 1.789 | DN |
ring/marker X and Y chromosomes | 1 | 0.256 | NR |
20p13x1 | 1 | 4.670 | NR |
SRY deletion | 1 | 4.105 | DN |
1q21.1 duplication syndrome OMIM 612475 | 1 | 3.776 | mat |
Xq28x3,14q13.1x3 | 1 | 2.239, 1.171 | DN |
21q21.3q22.11x1 | 1 | 5.030 | DN |
17p13.3p13.2x3 Including PAFAH1B1 gene OMIM 601545 | 1 | 1.375 | NR |
Xp22.2x1 Including HCCS gene OMIM 300056 | 1 | 0.301 | mat |