del(16)(p11.2p11.2)

Epidemiology and Etiology:

· NAHR

· Reciprocal duplication also associated with autism

· 1% of multiplex families with autism

· Inheritance from both maternal and paternal alleles

· Not complete penetrance

· Has been seen in control populations (as has duplication)

Common sites:

·

Gross features:

· No definitely associated dysmorphisms or malformations

· May be due to relatively small size of deletion

Histologic features:

·

Immunophenotype:

Marker:

Sensitivity:

Specificity:

Molecular features:

· 16p11.2 is rich in seg dups

· Relatively small 593 kb deleted region between 2 seg dups at 29.57-30.01 Mb (NCBI 36.1) (147 kb with > 99% homology)

· Reciprocal duplication also associated with autism

Other features:

· Autism

· Trend towards aggression and overactivity

References:

· Slavotinek AM. Novel microdeletion syndromes detected by chromosome microarrays. Hum. Genet. 2008;124(1):1-17.