What is 16p11 2 Microduplication syndrome?

The 16p11. 2–p12. 2 duplication syndrome is a recurrent genomic disorder with a variable phenotype including developmental delay, dysmorphic features, mild to severe intellectual disability, autism, obsessive or stereotyped behaviour, short stature and anomalies of the hands and fingers.

How many microdeletion syndromes are there?

Theoretically, for every microdeletion syndrome there should be a reciprocal microduplication syndrome. However, there are at present 211 microdeletion syndromes versus only 79 microduplication syndromes reported (Table 1, Suppl.

What is 16 p 11.2 deletion syndrome?

The proximal 16p11. 2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

How common are microdeletion syndromes?

Microdeletion 22q11 deletion syndrome (22q11DS) has a prevalence of approximately 1 in 3000 births. It is the most common syndrome associated with patients with isolated CP, and it has been increasingly recognized in patients who present with velopharyngeal dysfunction.

What are the clinical features of 1q21 duplication syndrome?

Some have slightly unusual facial features such as wide-set eyes or low-set ears. As adults, individuals with a 1q21. 1 microduplication may be prone to develop cysts, swollen and knotted (varicose) veins, or carpal tunnel syndrome, which is characterized by numbness, tingling, and weakness in the hands and fingers.

What is the life expectancy of a child with Wolf-Hirschhorn syndrome?

The median survival time for de novo deletions was 34+ years while for translocation cases it was 18+ years. CONCLUSIONS—The mortality rate is lower than previously reported. There is a statistically significant relationship between deletion size and overall risk of death in de novo deletion cases.

What are the other names for microduplication syndrome?

16p13.11 Microduplication Syndrome 16p13.11 microduplication syndrome Other Names: Dup(16)(p13.11); Trisomy 16p13.11Dup(16)(p13.11); Trisomy 16p13.11 Read More Read Less About the Disease Diagnosis & Treatment Living with the Disease Research Disease at a Glance Symptoms Causes Next Steps Navigate to sub-section Disease at a Glance Summary

What are the phenotypic effects of microduplication syndromes?

Most of the phenotypic effects of these microduplications are due to changes in a few critical dose-sensitive genes or, in some cases, a single gene if a duplication disrupts its integrity. The phenotype of microduplication syndromes is often less clear and less well defined than for the corresponding microdeletion syndrome.

What are microduplications?

Microduplications, or submicroscopic duplications, are chromosomal duplications that are too small to be detected by light microscopy using conventional cytogenetics methods. Specialized testing is needed to identify these duplications. Microduplications are typically one to three megabases (Mb) long and involve several contiguous genes.

What is the relationship between microduplications and psychiatric disorders?

In childhood, 1q21.1 microduplications may also be associated with an increased risk of attention-deficit/hyperactivity disorder (ADHD) and other behavioral problems. Psychiatric disorders such as schizophrenia or mood disorders such as anxiety or depression occur in some affected individuals, usually during adulthood.