Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications - Di Gregorio, Eleonora; Gai, Giorgia; Botta, Giovanni; Calcia, Alessandro; Pappi, Patrizia; Talarico, Flavia; Savin, Elisa; Ribotta, Marisa; Zonta, Andrea; Mancini, Cecilia; Giorgio, Elisa; Cavalieri, Simona; et al. (Cytogenetic and genome research, 2015)
Keywords: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; Autopsy; Chromosome Deletion; Chromosome Duplication; Comparative Genomic Hybridization - statistics & numerical data; DNA Copy Number Variations; Female; Fetus; Genotype; Humans; Karyotyping; Original Article; Phenotype; Pregnancy; Prenatal Diagnosis - statistics & numerical data; Fetal malformations; Genomic rearrangement; aCGH; Multiple chromosomal rearrangements; Copy number variants