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

• Published in: Gene Vol. 516; no. 1; pp. 138 - 142
• Main Authors: Chen, Chih-Ping, Chen, Yi-Yung, Chern, Schu-Rern, Wu, Peih-Shan, Su, Jun-Wei, Chen, Yu-Ting, Chen, Li-Feng, Wang, Wayseen
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.03.2013
• Subjects: 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
• ISSN: 0378-1119; 1879-0038; 1879-0038
• DOI: 10.1016/j.gene.2012.12.051

We present rapid aneuploidy diagnosis of de novo partial trisomy 12q (12q24.21→qter) and partial monosomy 6q (6q27→qter) by aCGH using uncultured amniocytes in a fetus with coarctation of the aorta, ventriculomegaly and thickened nuchal fold. We discuss the association of TBX3, TBX5 and MED13L gene duplication with coarctation of the aorta, and the association of RNASET2 gene haploinsufficiency with ventriculomegaly in this case. ► We present concomitant del(6)(q27→qter) and dup(12)(q24.21→qter). ► The phenotype includes aortic coarctation and ventriculomegaly. ► We discuss the genotype–phenotype correlation.