PMC8671809_01
Clinical and genetic characteristics of the family with the MAGED2 mutation. (A) The changes in the amniotic fluid index during pregnancy for the patient with an MAGED2 mutation during pregnancy. (B) A pedigree diagram of the family. (C) Sanger analysis showed c.733_734delCT (p. Leu245GlufsTer4) of the MAGED2 (NM_177433.1) variant in the fetus; his mother carried the variant in the heterozygous state.
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PMC8671809_01_fped-09-778814-g0001.jpg
F1
Prior to childbirth, she did not present with symptoms of polyhydramnios by ultrasound (Figure 1A), and the amniotic fluid was 850 ml at delivery. Sanger analysis of the variant for the fetus showed that it came from his healthy mother, and his mother carried the variant in the heterozygous state (Figures 1B,C).
PMC8671809_02
The kidney ultrasound of the male neonate. Normal kidneys and adrenal glands are shown.
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PMC8671809_02_fped-09-778814-g0002.jpg
F2
His kidney ultrasound showed normal kidneys and adrenal glands; the left kidney was 4.61 x 2.37 cm, and the right kidney was 4.12 x 1.73 cm (Figure 2).