Clinical findings and genetic analysis of patients with copy number variants involving 17p13.3 using a single nucleotide polymorphism array: a single-center experience

• DOI: 10.1186/s12920-022-01423-5
• Publication Date: 2022-12-21T16:03:33Z
• Authors: Bin Liang; Donghong Yu; Wantong Zhao; Yan Wang; Xiaoqing Wu; Lingji Chen; Na Lin; Hailong Huang; Liangpu Xu
• Keywords: Human genetics; Single Center

17p13.3 microdeletions or microduplications (collectively known as copy number variants CNVs) have been described in individuals with neurodevelopmental disorders. However, CNVs were rarely reported fetuses. This study aims to investigate the clinical significance of varied sizes and gene content prenatal postnatal samples. Eight cases out 8806 samples that had subjected single nucleotide polymorphism array analysis retrospectively analyzed, along karyotyping, features, follow-up. consisted five fetuses, one aborted embryo two probands manifested severe congenital defects. The indications testing considerably for including ultrasound abnormalities (n = 3), segmental deletions indicated by non-invasive 1), intellectual disability mother fetus 1). Of them, six harbored gains losses involving 17p13.3, respectively. size detected ranged from 576 kb 5.7 Mb. Case 1 was diagnosed duplication syndrome, 4, 6, 7 Miller-Dieker syndrome (MDS). Microdeletions region (cases 5 8) YWHAE CRK, sparing PAFAH1B1, classified pathogenic. 2 a microduplication, encompassing CRK but not which maternal origin considered variant uncertain significance. 3 carried 74.2 Mb mosaic approximately 3.5 on chromosome 17p13.2q25.3, at 17p13.3p13.2 17q25.3. karyotype case 46,XY,r(17)(p13q25). For only continued gestation showed normal development age 15 months; others termination pregnancy. findings among subjects, often differ content. containing typical MDS region, well could be small duplications PAFAH1B1 remains uncertain, parental heterogeneity should genetic counseling.