A Case of Class I 17p13.3 Microduplication Syndrome with Unilateral Hearing Loss

17p13 is a chromosomal region characterized by genomic instability due to high gene density leading multiple deletion and duplication events. 17p13.3 microduplication syndrome rare condition, reported only in 40 cases worldwide, which found the Miller–Dieker region, presenting wide range of phenotypic manifestations. Usually, duplicated area de novo varies size from 1.8 4.0 Mbp. Critical genes for this are PAFAH1B1 (#601545), YWHAE (#605066), CRK (#164762). can be categorized into two classes (Class I Class II) based on that present area, lead different phenotypes. In report, we new case presents with unilateral sensorineural hearing loss. Oligonucleotide SNP array comparative hybridization (a-CGH) analysis revealed approximately 121 Kbp chromosome 17p13.3, includes genes. Whole-exome sequencing (WES) confirmed duplication. Our patient has common clinical symptoms syndrome, addition, she Interestingly, WES did not detect any mutations associated The above findings us propose loss manifestation syndrome.