Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 12q (12q24.21→qter) and partial monosomy 6q (6q27→qter) associated with coarctation of the aorta, ventriculomegaly and thickened nuchal fold - Chen, Chih-Ping; Chen, Yi-Yung; Chern, Schu-Rern; Wu, Peih-Shan; Su, Jun-Wei; Chen, Yu-Ting; Chen, Li-Feng; Wang, Wayseen (Gene, 2013)
Keywords: Adult; aorta; Aortic Coarctation; Aortic Coarctation - genetics; Chromosome Deletion; Chromosomes, Human, Pair 12; Chromosomes, Human, Pair 12 - genetics; Chromosomes, Human, Pair 6; Chromosomes, Human, Pair 6 - genetics; Coarctation of the aorta; Female; fetus; gene duplication; genes; genetics; Humans; Hydrocephalus; Hydrocephalus - genetics; In Situ Hybridization, Fluorescence; Karyotyping; MED13L; monosomics; Nuchal Translucency Measurement; Pregnancy; Prenatal Diagnosis; RNASET2; TBX3; TBX5; trisomics; Trisomy; Trisomy - genetics; Ventriculomegaly; BAC; Ventriculomegaly; RNASET2; MoM; del; AFP; TBX5; aCGH; TBX3; QF-PCR; MED13L; der; t; FISH; dup; Coarctation of the aorta