Prenatal diagnosis of oral-facial-digital type I syndrome in a fetus with partial monosomy of Xp22.2

Abstract

The first case of prenatal diagnosis of type I oro-facio-digital syndrome (OMIM 311200) in fetus with partial monosomy Xp22.2 is presented. The cause of type I oro-facio-digital syndrome is mutations in the OFDI gene, cases of disease due to chromosomal microdeletions affecting the OFDI gene are rare. Ultrasound examination of the fetus in the second trimester of pregnancy revealed congenital defect of brain development and multiple echographic markers of chromosomal and syndrome pathology. An umbilical cord blood was obtained in 21 weeks of gestation by cordocentesis. aCGH revealed partial monosomy Xp22.2 at 2.6 Mb in size: arr [hg19] Xp22.2(11135472_13798048) × 1. The presence of microdeletion, as well as its de novo origin, was confirmed by the quantitative real time PCR. The use of high-resolution molecular cytogenetic analysis significantly expands the possibilities of syndrome monogenic pathology diagnosis in the prenatal period.