PMC8561953_01
Ultrasound pictures demonstrate upper-limb malformations. (A) Ultrasound demonstrates shortness of the radius and ulna, especially the radius. (B) Ultrasound and (C) 3D views show that the hands had the inability to supinate. (D) Right thumb was missing in ultrasound imaging.
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F1
Fetal ultrasonography demonstrated shortness of the radius and ulna, especially the radius (Figure 1A). Both hands had the inability to supinate (Figures 1B,C), and the right thumb was missing in ultrasound imaging (Figure 1D).
Echocardiography demonstrates cardiac malformations. (A) Echocardiography demonstrates a 0.21-cm interruption of continuity in the ventricular septal membrane. (B) trans-septal blood flow signals at the VSD. VSD, ventricular septal defect.
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F2
Fetal echocardiography detected fetal cardiac tissues with ventricular septal defect (VSD), which exhibited an ~0.21-cm interruption of continuity in the ventricular septal membrane, and the signals of trans-septal blood flow were detected at the VSD (Figures 2A,B).
Sequence chromatograms of TBX5 gene in the family members. (A), (B), and (D): Mutation analysis revealed c.510+1G>A alteration in splice donor of TBX5 (A: fetus; B: father; and D: brother). (C), (E), and (F): Mother, grandpa and grandma carries the normal TBX5 gene. *The arrow of (A), (B), and (D) indicates the mutation site of TBX5 (c.510+1G>A) alteration in splice donor. But the arrow of (C), (D), and (F) indicates no mutation.
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F3
The WES revealed a heterozygous mutation in the fetus (Figure 3A). The variant, c.510+1G>A (RefSep NM_000192: c.510+1G>A), was inherited from the father, and mother is normal (Figures 3B,C). TBX5 gene was also found in the brother (Figure 3D), but not in grandfather and grandmother (Figures 3E,F). The variant occurs at splice donor.