Zamani, Ayse GulAcar, AynurDurakbasi-Dursun, GulYildirim, M. SelmanCeylaner, SerdarTuncez, Ebru2024-02-222024-02-2220141552-48251552-4833https://doi.org/10.1002/ajmg.a.36410https://hdl.handle.net/20.500.12452/10516Here, we report on a family with pericentric inversion of chromosome 18 [inv(18)(p11.2q21)] and two recombinants with a duplication of q21qter and a deletion of p11.2pter regions in a four-generation family. This chromosomal abnormality was inherited in our first patient from the father, while it was transmitted to the second patient from the mother. Array-CGH analysis were used to better characterize duplicated and deleted chromosomal regions and showed no genomic copy number variation (CNV) differences between these two relatives. We discussed genotype-phenotype correlations including previously reported. (c) 2014 Wiley Periodicals, Inc.eninfo:eu-repo/semantics/closedAccessChromosomal AbnormalitiesChromosome 18Pericentric InversionParental OriginArticle164512391244244782222-s2.0-84898912512Q2WOS:000334290300025Q310.1002/ajmg.a.36410