A variable copy-number change on chromosome 16
The recurrent 16p12.2 deletion is a small missing section of chromosome 16. The current GeneReviews chapter describes the recurrent form as approximately 520 kb on the GRCh38 reference genome. Older reports may call the same region a 16p12.1 microdeletion because chromosome-band naming changed with newer genome builds.
~520 kbRecurrent deletion size
16p12.2Current band name
VariableEffects differ widely
Clinical effects are highly variable. Some carriers have no obvious clinical findings, while others can have developmental, learning, neurological, behavioural or congenital differences. Reduced penetrance means the genetic result alone cannot predict exactly how strongly a person will be affected.
General educational information only. Individual chromosome results depend on the exact laboratory coordinates, deletion size and clinical context.
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