@article{3128868, title = "Prenatal detection of an inverted duplication deletion in the long arm of chromosome 1 in a fetus with increased nuchal translucency. Molecular cytogenetic analysis and review of the literature", author = "Manolakos, E. and Sifakis, S. and Sotiriou, S. and Peitsidis, P. and Eleftheriades, M. and Mersinias, V. and Liehr, T. and Thomaidis, L. and Kitsos, G. and Papoulidis, I. and Petersen, M.B. and Orru, S.", journal = "Clinical Dysmorphology", year = "2012", volume = "21", number = "2", pages = "101-105", issn = "0962-8827, 1473-5717", doi = "10.1097/MCD.0b013e32834e9279", keywords = "genomic DNA, adult; amnion cell; article; case report; chorion villus sampling; chromosome 1q; chromosome analysis; chromosome deletion; chromosome duplication; chromosome inversion; chromosome rearrangement; copy number variation; Down syndrome; embryo; female; fetus; fetus echography; fetus hydrops; fluorescence in situ hybridization; genetic counseling; genetic risk; human; human cell; karyotype; medical literature; nuchal translucency measurement; partial trisomy; partial trisomy 1q; polymerase chain reaction; pregnancy termination; prenatal screening; priority journal, Adult; Chromosome Deletion; Chromosome Duplication; Chromosome Inversion; Chromosomes, Human, Pair 1; Cytogenetic Analysis; Female; Fetal Diseases; Fetus; Humans; Hydrops Fetalis; Nuchal Translucency Measurement; Pregnancy; Prenatal Diagnosis; Trisomy" }