16p133

16p133 is not a standard cytogenetic term. In most genetic literature it corresponds to the region 16p13.3, a band on the short arm of chromosome 16. The designation indicates chromosome 16, short arm (p), band 13, sub-band 3, a defined genomic interval. Because 16p13.3 is widely used, 16p133 may appear as a typographical variant in some sources.

Location and structure

The 16p13.3 region lies on the short arm of chromosome 16 and comprises a defined cytogenetic interval. The exact gene content can vary between individuals and genome builds. Structural alterations that span all or part of 16p13.3, such as deletions or duplications, have been observed in humans and can influence phenotype.

Clinical significance

Copy number variants involving 16p13.3 have been associated with a spectrum of neurodevelopmental and congenital phenotypes. Reported associations include developmental delay, intellectual disability, autism spectrum disorder, and seizures, among others. Penetrance and expressivity are variable and depend on the size and specific genes involved in the CNV, as well as additional genetic and environmental factors. Some individuals with 16p13.3 alterations may also present with congenital anomalies or dysmorphic features.

Detection and research

16p13.3 CNVs are commonly detected with high-resolution genomic techniques such as array comparative genomic hybridization (array CGH) or SNP-based microarrays. FISH or sequencing-based methods may be used to refine breakpoints or confirm findings. Ongoing studies aim to delineate genotype–phenotype correlations and identify the specific genes driving clinical outcomes within this region.

Notes

The label 16p133 is inconsistent with standard notation; clinicians and researchers typically report 16p13.3. Counseling for affected individuals and families depends on the exact CNV content, inheritance pattern, and associated clinical features.