12
Oct
Recombinant 6
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Babcock et al. “Unusual Recombinant Chromosome 6 Derived From a Parental Rearrangement With Complex Paracentric Inversions”. “American Journal of Medical Genetics Part A” 2026, v. 200 (7), 1563-1572. Complex chromosomal rearrangements (CCRs) are structural variants involving at least three breakpoints usually across two or more chromosomes in a single rearrangement... Read More
12
Oct
16p CNV
Monica et al. “Clinical Insights into the Neurodevelopmental Impact of 16p CNVs in an Italian Clinical Cohort”. “Genes” 2026, v. 17, 247. Copy number variants (CNVs) at chromosome 16p are associated with highly variable neurodevelopmental disorders with recurrent loci (genomic locations), including 16p11.2, 16p13.11, and 16p13.3. 16p duplications are more... Read More
12
Oct
8q21.11 Deletion
Libotte et al. “Prenatal Diagnosis and Genotype-Phenotype Correlation in 8q21.11 Microdeletion Syndrome: A Case Report”. “International Medical Case Reports Journal” 2026, v.19 542044 8q21.11 microdeletion syndrome is a rare chromosomal disorder characterized by a highly variable phenotype that includes mild to moderate intellectual disability, distinctive facial features, and congenital anomalies... Read More
12
Oct
9q21q22 Duplication
Kawamura et al. “Intrachromosomal insertion as a diagnostic challenge: a hidden structural rearrangement causing recurrent duplication and deletion”. “Molecular Cytogenetics” 2026, v.19:8. Identification of a parental insertion is clinically important because of its implications for recurrence risk in subsequent offspring. While interchromosomal insertions can usually be recognized relatively easily by... Read More
30
Sep
Deletion 17q12 and the HNF1B gene
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
