case_images: PMC10512415_01
case_images: A novel frameshift mutation in the FMR1 gene in a Chinese family. (A) FXS pedigree. (B) CGG full-length peak of the FMR1 gene (upper panel) and CGG repeat peak (lower panel). The number of CGG repeats of the FMR1 gene was calculated by combining this figure. x-axis: fragment size, y-axis: signal strength. (C) Chromatogram of FMR1:c.585_586del identified by Sanger sequencing. (D) X chromosome inactivation assay using the mother's DNA. Upper panel: before enzyme digestion; lower panel: after enzyme digestion. The red arrow indicates the X chromosome from the mother and the green arrow indicates the X chromosome from the father. x-axis: fragment size, y-axis: signal strength.
case_images: fgene-14-1228682-g001.jpg
case_images: PMC10512415_05_fgene-14-1228682-g001.jpg
case_images: F1
case_images: The proband's grandmother (I2, Figure 1A): 72 years old, normal intelligence, height 160 cm, weight 45 kg, postmenopausal at the age of 50.
case_images: PMC10512415_02
case_images: A novel frameshift mutation in the FMR1 gene in a Chinese family. (A) FXS pedigree. (B) CGG full-length peak of the FMR1 gene (upper panel) and CGG repeat peak (lower panel). The number of CGG repeats of the FMR1 gene was calculated by combining this figure. x-axis: fragment size, y-axis: signal strength. (C) Chromatogram of FMR1:c.585_586del identified by Sanger sequencing. (D) X chromosome inactivation assay using the mother's DNA. Upper panel: before enzyme digestion; lower panel: after enzyme digestion. The red arrow indicates the X chromosome from the mother and the green arrow indicates the X chromosome from the father. x-axis: fragment size, y-axis: signal strength.
case_images: fgene-14-1228682-g001.jpg
case_images: PMC10512415_05_fgene-14-1228682-g001.jpg
case_images: F1
case_images: The proband's grandmother (I2, Figure 1A): 72 years old, normal intelligence, height 160 cm, weight 45 kg, postmenopausal at the age of 50.
case_images: PMC10512415_03
case_images: A novel frameshift mutation in the FMR1 gene in a Chinese family. (A) FXS pedigree. (B) CGG full-length peak of the FMR1 gene (upper panel) and CGG repeat peak (lower panel). The number of CGG repeats of the FMR1 gene was calculated by combining this figure. x-axis: fragment size, y-axis: signal strength. (C) Chromatogram of FMR1:c.585_586del identified by Sanger sequencing. (D) X chromosome inactivation assay using the mother's DNA. Upper panel: before enzyme digestion; lower panel: after enzyme digestion. The red arrow indicates the X chromosome from the mother and the green arrow indicates the X chromosome from the father. x-axis: fragment size, y-axis: signal strength.
case_images: fgene-14-1228682-g001.jpg
case_images: PMC10512415_05_fgene-14-1228682-g001.jpg
case_images: F1
case_images: The proband's grandmother (I2, Figure 1A): 72 years old, normal intelligence, height 160 cm, weight 45 kg, postmenopausal at the age of 50.
case_images: PMC10512415_04
case_images: A novel frameshift mutation in the FMR1 gene in a Chinese family. (A) FXS pedigree. (B) CGG full-length peak of the FMR1 gene (upper panel) and CGG repeat peak (lower panel). The number of CGG repeats of the FMR1 gene was calculated by combining this figure. x-axis: fragment size, y-axis: signal strength. (C) Chromatogram of FMR1:c.585_586del identified by Sanger sequencing. (D) X chromosome inactivation assay using the mother's DNA. Upper panel: before enzyme digestion; lower panel: after enzyme digestion. The red arrow indicates the X chromosome from the mother and the green arrow indicates the X chromosome from the father. x-axis: fragment size, y-axis: signal strength.
case_images: fgene-14-1228682-g001.jpg
case_images: PMC10512415_05_fgene-14-1228682-g001.jpg
case_images: F1
case_images: The proband's grandmother (I2, Figure 1A): 72 years old, normal intelligence, height 160 cm, weight 45 kg, postmenopausal at the age of 50.
case_images: PMC10512415_05
case_images: A novel frameshift mutation in the FMR1 gene in a Chinese family. (A) FXS pedigree. (B) CGG full-length peak of the FMR1 gene (upper panel) and CGG repeat peak (lower panel). The number of CGG repeats of the FMR1 gene was calculated by combining this figure. x-axis: fragment size, y-axis: signal strength. (C) Chromatogram of FMR1:c.585_586del identified by Sanger sequencing. (D) X chromosome inactivation assay using the mother's DNA. Upper panel: before enzyme digestion; lower panel: after enzyme digestion. The red arrow indicates the X chromosome from the mother and the green arrow indicates the X chromosome from the father. x-axis: fragment size, y-axis: signal strength.
case_images: fgene-14-1228682-g001.jpg
case_images: PMC10512415_05_fgene-14-1228682-g001.jpg
case_images: F1
case_images: The proband's grandmother (I2, Figure 1A): 72 years old, normal intelligence, height 160 cm, weight 45 kg, postmenopausal at the age of 50.