7q34

7q34 is a cytogenetic band on the long arm (q) of human chromosome 7. The designation refers to a specific location in the chromosome's banding pattern used by clinical cytogenetics and genetic testing. The band 7q34 is located distal to 7q33 and proximal to 7q35 and encompasses multiple genes rather than a single gene.

Alterations that involve 7q34, including microdeletions and microduplications, have been reported in individuals with a range of clinical features. Because many genes lie within this interval, phenotypes are variable and depend on the exact genes affected. Reported observations in case studies include developmental delay or intellectual disability, congenital anomalies, or neurodevelopmental and dysmorphic features. No single syndrome is defined by 7q34 alone.

Detection commonly relies on chromosomal microarray analysis, comparative genomic hybridization, and, less frequently, high-resolution karyotyping or sequencing. The interpretation of CNVs at 7q34 depends on their size, gene content, inheritance, and the clinical presentation of the person. De novo alterations tend to be more likely pathogenic, whereas inherited changes from an unaffected parent may be benign or of uncertain significance.

In clinical practice, 7q34 CNVs are discussed in genetic counseling, with consideration of reproductive risk and available testing for family members. Research continues to refine the map of genes within 7q34 and their roles in development and disease.