Lekárska genetika a diagnostika 2/2025
Chromosomal region 15q11.2-q13.3: a vulnerable site in the genome
The chromosomal region 15q11-q13 is characterized by an increased susceptibility to various genetic alterations, including microdeletions and microduplications. This study focuses on copy number variations (CNVs) within this region and their correlation with clinical phenotypes. The 15q11-15q13 region is associated with well-characterized syndromes such as Prader-Willi syndrome (PWS) and Angelman syndrome (AS), as well as with other neuropsychiatric disorders, including autism spectrum disorder and schizophrenia. When such genetic alterations are identified, it is imperative to undertake detailed genetic diagnostics to precisely determine the extent of the affected region. Microdeletions and microduplications in the 15q11.2 segment are notable for their high prevalence within the general population and low penetrance. These factors which must be considered during clinical management, particularly in the context of prenatal genetic testing. This report illustrates a case of prenatal genetic diagnostics of a microdeletion at 15q11.2, followed by postnatal monitoring and clinical management of the affected infant. Variations within the chromosomal region 15q11.2-15q13.3 require a comprehensive approach in clinical practice, including long-term follow-up and management by medical geneticists. Enhancing access to detailed genetic diagnostics contributes to improved healthcare quality and advances understanding of phenotypic variability associated with subchromosomal aberrations.
Keywords: chromosomal region 15q11-q13, deletion, duplication, clinical management, prenatal genetic diagnostics, postnatal follow-up
