Prenatal diagnosis of partial monosomy 5p (5p15.1 -> pter) and partial trisomy 7p (7p15.2 -> pter) associated with cystic hygroma, abnormal skull development, and ventriculomegaly

摘要

Objective: Prenatal diagnosis of concomitant chromosome 5p deletion syndrome and chromosome 7p duplication syndrome in a fetus with abnormal prenatal ultrasound is presented.