Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 12q (12q24.21Â âÂ qter) and partial monosomy 6q (6q27Â âÂ qter) associated with coarctation of the aorta, ventriculomegaly and thickened nuchal fold

Article ID	Journal	Published Year	Pages	File Type
5906771	Gene	2013	5 Pages	PDF

Abstract

âº We present concomitant del(6)(q27Â âÂ qter) and dup(12)(q24.21Â âÂ qter). âº The phenotype includes aortic coarctation and ventriculomegaly. âº We discuss the genotype-phenotype correlation.

Keywords

RNASET2 Ventriculomegaly aCGH TBX3 DUP QF-PCR DER Tbx5 multiples of the median Coarctation of the aorta BAC α-fetoprotein Array comparative genomic hybridization Translocation AFP duplication deletion DEL fluorescence in situ hybridization MoM Fish Derivative quantitative fluorescent polymerase chain reaction bacterial artificial chromosome

Related Topics

Life Sciences Biochemistry, Genetics and Molecular Biology Genetics

Preview

Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 12q (12q24.21Â âÂ qter) and partial monosomy 6q (6q27Â âÂ qter) associated with coarctation of the aorta, ventriculomegaly and thickened nuchal fold

Authors

Chih-Ping Chen, Yi-Yung Chen, Schu-Rern Chern, Peih-Shan Wu, Jun-Wei Su, Yu-Ting Chen, Li-Feng Chen, Wayseen Wang,