17q233

17q23.3 is a cytogenetic band on the long arm of human chromosome 17. It is used in genetic reporting to describe the location of genes and chromosomal alterations.

The region lies within the q23 region on chromosome 17 and spans several megabases, depending on genome assembly. It contains numerous protein-coding genes and regulatory elements, contributing to diverse biological functions.

Variations in 17q23.3, including deletions and duplications, have been reported in individuals with neurodevelopmental disorders, congenital anomalies, and variable clinical features. The phenotypic outcomes are highly variable and depend on the exact breakpoints and genes affected. Some reports refer to 17q23 microdeletion syndrome and 17q23 duplication syndrome, but the condition lacks a single defined phenotype.

Detection of CNVs in this region is typically performed by microarray-based methods such as array comparative genomic hybridization or SNP arrays. Larger rearrangements may be identified on conventional karyotyping; targeted testing with fluorescence in situ hybridization (FISH) can confirm findings.

As with other chromosomal regions, ongoing research aims to refine the clinical significance of 17q23.3 rearrangements and to map the underlying gene contributions to observed traits.

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