30
Sep
Deletion 17q12 and the HNF1B gene
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The area 17q12 includes a relatively small ~1.5 Mb segment flanked by similar areas of low-copy repeats. The presence of such an area facilitates the so-called non-allelic homologous recombination. As a result this segment is susceptible to deletions (as well as duplications). Deletions of this area are relatively common with... Read More
30
Sep
Deletion 2p16.1p15, USP34 and XPO1 genes
Deletion 2p16.1p15 is a relatively rare abnormality reported so far in ~50 patients. Most affected persons show microcephaly, growth delay, spectrum of dysmorphic features (hypertelorism, down slanting palpebral fissures, broad nasal root, short philtrum, high palate) and intellectual disability. Many patients also reveal hearing impairment, hypotonia and autism spectrum disorder.... Read More
08
Sep
2q24.3 Deletion
Kashima et al. “Efficacy of Dravet Syndrome Treatments in a Subset of Individuals with 2q24.3 Deletion: A-5 Patient Case Series”. “Journal of Child Neurology” 2025, v. 0(0). Dravet syndrome is characterized by recurrent, prolonged seizures and neurodevelopmental concerns. Approximately 80% of patients diagnosed with Dravet syndrome (DS) have genetic variants... Read More
08
Sep
Jacobsen Syndrome
Garriz-Luis et al. “Clinical and neuropsychological characterization of Jacobsen syndrome (del11q)”. “Journal of Neurodevelopmental Disorders” 2026, v. 18:4. Jacobsen syndrome is a chromosomal disorder characterized by loss of the terminal end of chromosome 11q. Individuals with Jacobsen syndrome are characterized by intellectual disability, developmental delays, growth delay, behavioral issues,... Read More
08
Sep
10p11.2 Deletion
Okamoto et al. “A Patient With Intellectual Disability, Agenesis of Corpus Callosum, and Congenital Heart Disease Associated With Chromosome 10p11.2 Microdeletion”. “American Journal of Pediatrics Part A” 2026, v. 0:1–8 DeSanto–Shinawi syndrome (WAC-related disorder) is a genetic disorder caused by pathogenic variants or deletions involving the WAC gene, located on... Read More
