19q133

19q13.3 is a cytogenetic band on the long arm of chromosome 19. In standard human genome maps, the designation describes a specific segment within the q13 region of chromosome 19. The 19q13.3 area is part of a gene-rich portion of the genome that contains many coding and noncoding elements, and the exact content of the region can vary slightly with different genome assemblies.

Genetic variation in 19q13.3 has been observed in clinical studies, particularly in the context of copy-number changes such as deletions or duplications. The phenotypic consequences of alterations in this region are variable and depend on the size of the rearrangement and which genes are affected. Reported features in some individuals with 19q13.3-related CNVs include developmental delay or intellectual disability, language and motor challenges, and congenital or neonatal abnormalities, though not all individuals are affected and some may have mild or no obvious clinical signs.

Detection and interpretation: Changes in 19q13.3 are typically identified through chromosomal microarray analysis (array CGH) or other genome-wide sequencing approaches. Because phenotypes are influenced by the specific genes disrupted, interpretation often relies on correlation with clinical findings and comparison to databases of reported CNVs. Inheritance can be de novo or inherited from a parent, and parental testing can help assess recurrence risk.

See also: chromosome 19, cytogenetic bands, microdeletion syndromes, genomics testing.