Publications by authors named "T Chilarska"
Article Synopsis
- Autism spectrum disorders (ASDs) are diverse neurodevelopmental disorders marked by challenges in social communication and repetitive behaviors, with various genetic factors, especially copy number variants (CNVs), believed to play a significant role in their development.
- A study involving 180 patients aged 2 to 17 analyzed genomic samples using advanced aCGH technology, uncovering nine pathogenic and six likely pathogenic imbalances, alongside 20 variants of uncertain significance, particularly noting more prevalent variants in patients with additional clinical features.
- The findings emphasize the importance of using enhanced microarray techniques for accurate ASD diagnostics, as 12 detected variants, some likely pathogenic, were missed with standard microarray methods, indicating a
Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue. It presents with a wide spectrum of skeletal and extraskeletal features, and ranges in severity from mild to perinatal lethal. The disease is characterized by a heterogeneous genetic background, where approximately 85%-90% of cases have dominantly inherited heterozygous pathogenic variants located in the and genes.
View Article and Find Full Text PDFCongenital microcephaly causes smaller than average head circumference relative to age, sex and ethnicity and is most usually associated with a variety of neurodevelopmental disorders. The underlying etiology is highly heterogeneous and can be either environmental or genetic. Disruption of any one of multiple biological processes, such as those underlying neurogenesis, cell cycle and division, DNA repair or transcription regulation, can result in microcephaly.
View Article and Find Full Text PDFMowat-Wilson syndrome is a rare neurodevelopmental disorder caused by pathogenic variants in the ZEB2 gene, intragenic deletions of the ZEB2 gene, and microdeletions in the critical chromosomal region 2q22-23, where the ZEB2 gene is located. Mowat-Wilson syndrome is characterized by typical facial features that change with the age, severe developmental delay with intellectual disability, and multiple congenital abnormalities. The authors describe the clinical and genetic aspects of 28th patients with Mowat-Wilson syndrome diagnosed in Poland.
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