... spectrum disorder Chromosomal microarray analysis Clinical exome sequencing Whole-exome sequencing Neurodevelopmental disorder (NDD), decreased motor functions of the brain, impaired cognitive functions, delay in speech, and/or inadequacy in social skills are defined [Mithyantha et al., 2017...

... to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. 2023 Chromosomal microarray analysis Copy number variations Reanalysis ARID1B EHMT1 FOXP1 The patient had a newly detected copy number loss of 236.5 kb...

... contribute to other clinical phenotypes is still considered a challenge. In order to establish genotype-phenotype correlation in patients with interstitial deletions of the short arm of chromosome 11, we selected 17 patients with deletions identified by chromosomal microarray analysis: 4 new subjects and 13...

..., clinical features of the cases are presented in Table  2 . Table 1. Summary of copy number variations detected in cases with nonsyndromic/isolated ASD Table 2. Summary of clinical features in the ASD cases In this study, we performed chromosomal microarray analysis to evaluate...

..., Hilden, Germany), according to the manufacturer's instructions. The quality and quantity of the DNA was determined using the NanoDrop 2000c UV-VIS spectrophotometer (Thermo Fisher Scientific, Waltham, MA, USA). Chromosomal microarray analysis was performed using the high-resolution 4x 180K G3 CGH+SNP...

...-phenotype correlation Mosaicism Array CGH Autism Chromosomal microarray analysis • Precise genetic diagnosis is crucial to delineate genotype/phenotype correlation and provide adequate genetic counseling for families of dysmorphic patients. • The clinical findings observed in patients may...

..., and absence of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa, with a rearrangement at Xq28 harboring the DKC1 gene. GTC-banding revealed a male karyotype (46,XY) with no visible numerical or structural alterations. Chromosomal microarray analysis (CMA) showed a 0.36-Mb gain...

... by dysmorphic features, psychomotor and language delay. We present an 11-year-old female patient with intellectual disability and typical clinical characteristics of MRD18. Chromosomal microarray analysis (CMA) revealed a novel CNV, approximately 200 kb in size and showed that the INTS3 and SLC27A3 genes...

... dysmorphisms, friendly behavior, and epileptic seizure with a de novo 17q21.31 microdeletion detected by chromosomal microarray analysis (CMA). Conventional cytogenetics analysis by GTG-banding showed a female karyotype 46,XX for both girls. CMA revealed a microdeletion spanning approximately 500 kb...

... contains the ELN gene. We analyzed 10 patients diagnosed with 7q11.23 microdeletion syndrome by chromosomal microarray analysis. The clinical features of these patients varied from classic WBS to normal phenotype. All 10 patients exhibited different sizes and breakpoints of chromosome microdeletions...

...Sander Pajusalu; Olga Žilina; Maria Yakoreva; Pille Tammur; Kati Kuuse; Triin Mölter-Väär; Margit Nõukas; Tiia Reimand; Katrin Õunap We present data from our clinical department's experience with chromosomal microarray analysis (CMA) regarding the diagnostic utility of 1 or 2 long contiguous...