12q1312q15

12q13.1-12q15 refers to a segment on the long arm (q) of chromosome 12, extending from band q13.1 to q15. In cytogenetic notation, this interval is used to describe structural rearrangements that involve this portion of chromosome 12, such as deletions, duplications, or translocations. The exact genomic content of the segment depends on the precise breakpoints, and changes in copy number within this interval can alter the dosage of multiple genes.

The clinical significance of alterations in 12q13.1-12q15 is variable and largely depends on the size of the alteration and which genes are affected. Larger deletions or duplications may be associated with developmental delay, congenital anomalies, growth abnormalities, or dysmorphic features, while smaller or less disrupted changes can have little or no observable phenotype. Because this region contains numerous genes, predicting outcomes requires careful interpretation of the specific breakpoints and gene content, often in the context of the individual’s clinical presentation and family history.

Detection and interpretation typically involve a combination of genetic testing methods. Conventional karyotyping can identify large rearrangements, while higher-resolution approaches such as chromosomal microarray analysis (array CGH) or whole-genome sequencing can define exact copy-number changes and breakpoints. Fluorescence in situ hybridization (FISH) may be used to confirm suspected imbalances or to determine parental inheritance. Clinicians rely on established guidelines to classify the pathogenicity of findings and to provide counseling based on the proven or suspected impact on health.