Prenatal Three-Dimensional Ultrasound Detection of Adducted Thumbs in X-Linked Hydrocephaly: Two Case Reports with Molecular Genetic Studies

Table 1

Genetic information of the mutation detected in our cases.

	Case; Mother	Case; Fetus	Case; Previous son	Case; Mother	Case; Fetus
Gene	L1CAM	L1CAM	L1CAM	L1CAM	L1CAM
Exon	7	7	7	24	24
Mutation	Missense	Missense	Missense	Nonsense	Nonsense
DNA base	c.803G>A	c.803G>A	c.803G>A	c.3241C>T	c.3241C>T
Aminoacid	p.Gly268Asp	p.Gly268Asp	p.Gly268Asp	p.Gin1081X	p.Gin1081X