TY - JOUR TI - 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 AU - Manolakos, E. AU - Sifakis, S. AU - Sotiriou, S. AU - Peitsidis, P. AU - Eleftheriades, M. AU - Mersinias, V. AU - Liehr, T. AU - Thomaidis, L. AU - Kitsos, G. AU - Papoulidis, I. AU - Petersen, M.B. AU - Orru, S. JO - Clinical Dysmorphology PY - 2012 VL - 21 TODO - 2 SP - 101-105 PB - SN - 0962-8827, 1473-5717 TODO - 10.1097/MCD.0b013e32834e9279 TODO - 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 TODO - null ER -