16p112

16p112 is an informal designation used in some clinical records to refer to a recurrent genomic interval on the short arm of chromosome 16. In standard cytogenetic nomenclature the region is referred to as 16p11.2. The interval spans roughly several hundred kilobases and contains multiple genes, with several candidates such as KCTD13, MAPK3, SEZ6L2, and SH2B1 highlighted in research. The region is flanked by segmental duplications, making it prone to non-allelic homologous recombination and resulting in recurrent copy-number variations (CNVs).

Clinically, 16p11.2 CNVs are among the most studied genomic rearrangements associated with neurodevelopmental disorders. A heterozygous deletion of 16p11.2 is commonly linked to developmental delay or intellectual disability, autism spectrum disorder, and, in some carriers, macrocephaly and obesity. A reciprocal microduplication of the same interval is also associated with a spectrum of neurodevelopmental phenotypes, including autism and language delay, and may be related to microcephaly and reduced body mass index in some individuals. The expressivity is variable, and penetrance is incomplete, so not all carriers exhibit all features.

Diagnosis typically relies on array-based technologies such as array comparative genomic hybridization or SNP arrays to detect CNVs, with parental testing recommended to determine inheritance. Management is multidisciplinary and personalized, focusing on developmental therapies, educational interventions, and monitoring and addressing associated features. There is no cure for the CNV itself; care centers on supporting development and well-being while providing genetic counseling about recurrence risks.