Table 1 Molecular characteristics and indication for the invasive diagnosis of a fetus with 1q21.1q21.2 microdeletion
Case | Indication for invasive diagnostic | CMA | Size (Mb) | Breakpoint regions | Inheritance | Pregnancy outcome |
|---|---|---|---|---|---|---|
P1397 | Balanced translocation of paternal chromosomes(45,XY,der(14;21)(q10; q10)) | arr[GRCh37]1q21.1q21.2(146,106,723_147,933,973)x1 | 1.8 | 1q21.1recurrentregion (BP3-BP4) | Paternal | Healthy |
R2973 | Fetal ultrasound abnormality: thickened nuchal translucency | arr[GRCh37]1q21.1q21.2(145,829,473_148,016,122)x1 | 2.2 | 1q21.1 recurrent region (BP3-BP4) | Refused | Healthy |
P6104 | Fetal ultrasound abnormality: right-dominant heart, permanent right umbilical vein, and mild tricuspid regurgitation | arr[GRCh37]1q21.1q21.2(145,084,525_147,885,600)x1 | 2.8 | 1q21.1 recurrent region (BP2-BP4) | Paternal | Normal appearance (No ultrasound examination) |
P2237 | High risk of Down syndrome screening | arr[GRCh37]1q21.1q21.2(145,792,037_147,830,830)x1 | 2.0 | 1q21.1 recurrent region (BP3-BP4) | Refused | Healthy |
P6047 | Advanced age | arr[GRCh37]1q21.1q21.2(145,895,746_147,933,973)x1 | 2.0 | 1q21.1 recurrent region (BP3-BP4) | Refused | TP |