Developmental delay (speech), behavioral abnormalities (autism)
Multiple congenital abnormalities and/or mental retardation (MCAMR)
Autism - Microdeletion 16p11.2
Clinical Features
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.
Genetic Information
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.
Prevalence
3: 10 000
Diagnostic
Indication
Method
MLPA
Array CGH
Sample Requirement
2 - 4 ml of EDTA blood
Duration
approx. 2- 3 weeks