Multiple Congenital Anomalies and Global Developmental Delay in a Patient with Interstitial 6q25.2q26 Deletion: A...

Area of Science:

• Genetics
• Clinical Medicine
• Developmental Biology

Background:

• Interstitial deletions of chromosome 6q25 are uncommon genetic abnormalities.
• These deletions are linked to specific phenotypic characteristics, often presenting in early childhood.

Observation:

• A 9-year-old boy with multiple congenital anomalies and a complex medical history was evaluated.
• Previous genetic tests, including array-comparative genomic hybridization (array-CGH), were inconclusive.
• A single-nucleotide polymorphism (SNP) microarray revealed an 11.1 Mb deletion in the 6q25.2-6q26 region, encompassing ARID1B and ZDHHC14.

Findings:

• The identified 6q25 deletion aligns with the characteristics of 6q25 deletion syndrome.
• Key features include growth delay, developmental disabilities, microcephaly, hearing loss, and malformations like cleft palate.
• The patient's phenotype also showed overlap with Coffin-Siris syndrome, which is associated with ARID1B gene alterations.

Implications:

• This case expands the understanding of 6q25 deletion syndrome and its phenotypic spectrum.
• Recognizing this syndrome aids in accurate diagnosis and genetic counseling for patients with overlapping features.
• The findings highlight the utility of SNP microarray in identifying subtle deletions missed by other methods.