Table 2 Molecular characteristics and indication for the invasive diagnosis of a fetus with 1q21.1q21.2 microduplication
Case | Indication for invasive diagnostic | CMA | Size (Mb) | Breakpoint regions | Inheritance | Pregnancy outcome |
|---|---|---|---|---|---|---|
R3608 | Advanced age | arr[GRCh37]1q21.1q21.2(145,124,436_147,995,251)x3 | 2.9 | 1q21.1 recurrent region (BP2-BP4) | Refused | Healthy |
R3650 | Fetal ultrasound abnormality: nasal dysplasia | arr[GRCh37]1q21.1q21.2(146,096,700_147,391,923)x3 | 1.3 | 1q21.1 recurrent region (BP3-BP4) | Refused | Died 2 days after birth |
P9519 | Fetal ultrasound abnormality: each measurement value less than the duration of menopause, and mild tricuspid regurgitation | arr[GRCh37]1q21.1q21.2(145,886,339_147,844,777)x3 | 1.9 | 1q21.1 recurrent region (BP3-BP4) | Refused | TP |
E2860 | Fetal ultrasound abnormality: bilateral subependymal cysts, neck mass, and enlarged cardiothoracic ratio | arr[GRCh37]1q21.1q21.2(145,958,361_147,830,830)x3 | 1.8 | 1q21.1 recurrent region (BP3-BP4) | Refused | TP |
E2904 | Fetal ultrasound abnormality: right ventricular hypoplasia | arr[GRCh37]1q21.1q21.2(145,995,176_147,398,268)x3 | 1.4 | 1q21.1 recurrent region (BP3-BP4) | Refused | TP |
R59 | Fetal ultrasound abnormality: nasal dysplasia | arr[GRCh37]1q21.1q21.2(146,525,270_147,391,923)x3 | 0.86 | 1q21.1 recurrent region (BP3-BP4) | Refused | Healthy |