17q2133

17q2133 refers to a specific chromosomal region on the human chromosome 17. This notation indicates the long arm (q) of chromosome 17, at position 2, band 1, sub-band 3, and sub-sub-band 3. This region is a segment of DNA that contains a number of genes.

Variations within the 17q21.33 region have been associated with certain developmental and neurological conditions. These variations can include deletions or duplications of genetic material within this area. Deletions in 17q21.33 have been linked to a range of symptoms, often referred to as 17q21.33 deletion syndrome or Koolen-de Vries syndrome. This syndrome can manifest with intellectual disability, characteristic facial features, hypotonia (low muscle tone), and sometimes epilepsy.

Conversely, duplications in the 17q21.33 region have also been described and can lead to a different set of clinical presentations. Research in this area is ongoing, and the precise function of the genes within 17q21.33 and the full spectrum of phenotypes associated with its variations are still being elucidated. Genetic testing can identify these chromosomal alterations, aiding in diagnosis and genetic counseling for affected individuals and families.