...Ayberk Türkyılmaz; Safiye Güneş Sağer; Emine Caliskan; Merve Akçay; Oğuzhan Demir; Baran Baytar; Yasemin Akın Introduction: Copy number variation (CNV) is the difference in the sequence of genomic segments, which can vary from one kilobase to several megabases. Certain CNVs have been linked...

...Aida Ghasemi; Zahra Sadr; Mojgan Babanejad; Mohammad Rohani; Afagh Alavi Introduction: In human genetic disorders, copy number variations (CNVs) are considered a considerable underlying cause. CNVs are generally detected by array-based methods but can also be discovered by read-depth analysis...

..., instructions or products referred to in the content or advertisements. 2022 Pure partial trisomy 6p Primary congenital hypothyroidism Copy number variation 6p duplication Facial dysmorphism Partial trisomy 6p is a rare chromosomal anomaly, characterized by low birth weight...

... it to rearrangements via frequent nonallelic homologous recombination. Microarray technologies have enabled the analysis of copy number variations (CNV), which may be associated with the risk of developing complex diseases. Through comparative genomic hybridisation in 1,298 patients, we detected 18 cases...

...(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Chromosome 16q Deletion Copy number variation Growth delay Neurodevelopmental disorders Interstitial 16q...

... and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Array CGH 19q13.2 Deletion Copy number variation ATP1A3 Neurodevelopmental disorders (NDD) are of major...

... of copy number variations (CNVs). In our study, we performed a retrospective study on clinical and microarray data of 237 patients with developmental disabilities and/or multiple congenital anomalies and investigated the clinical utility of CMA. Phenotype-associated CNVs were detected in 15.18...

.... Chromosomal microarray analysis Copy number variation GATAD2B Intellectual disability MRD18 The Diagnostic and Statistical Manual of Mental Disorders (DSM-5) classifies intellectual disability (ID) as a generalized neurodevelopment disorder characterized by significant limitations...

... 17, r(17)(p13.3q25.3), with a terminal 17q25.3 deletion and no short arm copy number loss, and with a phenotype characterized by intellectual disability and drug-resistant epilepsy, including a propensity for nonconvulsive status epilepticus. Copy number variation Epilepsy comorbidity...

... disease Copy number variation Congenital heart disease (CHD) is the most common disorder among live births with an incidence of 10/1,000 newborns [Payne et al., 2012; Osoegawa et al., 2014]. It is considered a major cause of morbidity and mortality, especially when associated with extracardiac...

.... Chromosomal microarray analysis Copy number variation Microdeletion 17q21.31 • Koolen-De Vries syndrome is a rare genetic condition caused by 17q21.31 microdeletion including the KANSL1 and MAPT genes. • The main clinical features are developmental delay, facial dysmorphism, and friendly...

... or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. 1q21.1 microduplication Congenital heart defects Copy number variation GJA5...

..., instructions or products referred to in the content or advertisements. Cancer Chondrosarcoma Copy number variation Defect Enchondromatosis Enchondroma Gene Microarray Mutation Spindle cell hemangiomas Maffucci syndrome (MS) (OMIM 166000) is characterized by multiple enchondromas...

...Martin Poot Although autism spectrum disorder (ASD) shows a high degree of heritability, only a few mutated genes and mostly de novo copy number variations (CNVs) with a high phenotypic impact have as yet been identified. In families with multiple ASD patients, transmitted CNVs often do not appear...

... or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Array-CGH Copy Number Variation...

...M. Poot Recent genomic research into autism spectrum disorders (ASD) has revealed a remarkably complex genetic architecture. Large numbers of common variants, copy number variations and single nucleotide variants have been identified, yet each of them individually afforded only a small phenotypic...

...E. Brosens; H. Eussen; Y. van Bever; R.M. van der Helm; H. Ijsselstijn; H.P. Zaveri; R. Wijnen; D.A. Scott; D. Tibboel; A. de Klein Copy number variations (CNVs), either DNA gains or losses, have been found at common regions throughout the human genome. Most CNVs neither have a pathogenic...

... with severe subtypes of Fanconi anemia (FA) with or without VACTER-L association (VL). We investigated the hypothesis that early consequences of genomic instability result in shared regions with copy number variation in different precursor cells that originate distinct embryonal tumors. We observed a newborn...

...J. Breckpot; B. Thienpont; M. Gewillig; K. Allegaert; J.R. Vermeesch; K. Devriendt Studies addressing the role of somatic copy number variation (CNV) in the genesis of congenital heart defects (CHDs) are scarce, as cardiac tissue is difficult to obtain, especially in non-affected individuals. We...