Autism - Microdeletion 16p11.2

Klinische Symptomatik

Microdeletion 16p11.2 is characterized by developmental delay (expressive speech delay), impairment of intelligence, discrete dysmorphic features, autism, and schizophrenia. The impact of the reciprocal microduplication 16p11.2 is ambiguous. Some patients have been described with mild symptoms; the duplication, however, may occur in healthy individuals as well.

Genetik

The deletion size is approximately 600 Kb in chromosomal band 16p11.2. Most cases occur de novo; an autosomal dominant pattern of inheritance has also been described.

Häufigkeit

3: 10 000

 

Diagnostik