Case Reports in Obstetrics and Gynecology / 2015 / Article / Tab 1

Case Report

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

GeneL1CAML1CAML1CAML1CAML1CAM
Exon7772424
MutationMissenseMissenseMissenseNonsenseNonsense
DNA basec.803G>Ac.803G>Ac.803G>Ac.3241C>Tc.3241C>T
Aminoacid p.Gly268Aspp.Gly268Aspp.Gly268Aspp.Gin1081Xp.Gin1081X

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