16p11.2 duplication syndrome
| 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 on
Signs and symptoms
Individuals with a 16p11.2 duplication may experience intellectual impairment and developmental delay. Roughly one-third of kids with this illness experience delays in learning motor skills like sitting, crawling, or walking. Affected people's average IQ 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]
A 16p11.2 duplication can also result in other problems such as renal and urinary 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]
Causes
A genetic region on the short (p) arm of chromosome 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 of chromosome 16 in each cell to generate the disease since 16p11.2 duplications follow an autosomal dominant inheritance pattern.[3]
Research
Researchers at