| 16p11.2 duplication syndrome | |
|---|---|
| Other names | Proximal 16p11.2 microduplication syndrome |
 | |
| The inheritance pattern of 16p11.2 duplications is autosomal dominant. | |
| Specialty | Medical genetics |
16p11.2 duplication syndrome is a genetic condition caused by duplication of region onchromosome 16. The odds of developingautism spectrum disorder are elevated and comparable to the rate with16p11.2 deletion. The rate of havingADHD is higher than in people with deletion.[1][2]
Individuals with a 16p11.2 duplication may experience intellectual impairment anddevelopmental delay. Roughly one-third of kids with this illness experience delays in learning motor skills like sitting, crawling, or walking. Affected people's averageIQ is roughly 26 points lower than their parents'IQ without the duplication. Roughly 80% of individuals with a 16p11.2 duplication experience speech or language difficulties. It may have an impact on both receptive and expressive language abilities.[3]
ADHD is among the most prevalent behavioral issues linked to this chromosomal alteration. Approximately one in five individuals with a 16p11.2 duplication are diagnosed withautism spectrum disorder, a condition that impacts social and communication abilities. Additionally, there is a higher chance of mental health issues among affected people, such as sadness,anxiety, andschizophrenia. With this illness, recurrentseizures are conceivable, albeit they are uncommon in the majority of affected persons.[3]
A 16p11.2 duplication can also result in other problems such as renal andurinary system deformities. 16p11.2 duplications do not, however, exhibit a specific pattern of physical anomalies; in fact, the indications and symptoms associated with the chromosomal alteration differ even among afflicted family members.[3]
A genetic region on the short (p) arm ofchromosome 16 at a place known as p11.2 is duplicated in individuals with a 16p11.2 duplication. It is sufficient for a duplication in one copy ofchromosome 16 in each cell to generate the disease since 16p11.2 duplications follow an autosomal dominant inheritance pattern.[3]
Researchers atNorthwestern University created amouse model of the syndrome.[4]
