What is 16p11 2 Microduplication syndrome?

What is 16p11 2 Microduplication syndrome?

Overview. 16p11. 2 duplication is a chromosomal change in which a small amount of genetic material within chromosome 16 is abnormally copied (duplicated). This duplication occurs in the short (p) arm of chromosome 16 at a position known as 11.2. Signs and symptoms can vary widely among affected individuals.

What are two types of chromosome deletion?


  • Terminal deletion – a deletion that occurs towards the end of a chromosome.
  • Intercalary/interstitial deletion – a deletion that occurs from the interior of a chromosome.
  • Microdeletion – a relatively small amount of deletion (up to 5Mb that could include a dozen genes).

What does chromosome deletion mean?

Deletion is a type of mutation involving the loss of genetic material. It can be small, involving a single missing DNA base pair, or large, involving a piece of a chromosome.

Is 2p16 3 deletion rare?

Several large scale studies have shown that the 2p16. 3 deletion occurs in around 1 in 2,500 to 1 in 4,000 people with schizophrenia or developmental delay; and about 1 in 5,000 people not affected by schizophrenia or developmental delay (Kirov 2008; Ching 2010; Schaaf 2012).

What causes gene deletions?

Deletions occur when there is homologous but unequal recombination between gene sequences. Similar sequences in the human genome can cross over during mitosis or meiosis, resulting in a shortened portion of the gene sequence.

What is the 7th chromosome?

CM000669 (FASTA) Chromosome 7 is one of the 23 pairs of chromosomes in humans, who normally have two copies of this chromosome. Chromosome 7 spans about 159 million base pairs (the building material of DNA) and represents between 5 and 5.5 percent of the total DNA in cells.

What is proximal 16p11.2 microdeletion 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.

What are chromosome 16 disorders?

Synonyms of ATR-16 Syndrome

  • General Discussion.
  • Signs&Symptoms.
  • Causes.
  • Affected Populations.
  • Diagnosis
  • Standard Therapies.
  • Investigational Therapies.
  • Resources.
  • Supporting Organizations.
  • What is a missing chromosome?

    There are two common types of aneuploidy: monosomy (MOHN-oh-soh-mee) and trisomy (TRY-soh-mee). People with monosomy are missing a chromosome. So, for a particular chromosome, only one is present instead of two. People with trisomy have an extra copy of one of their chromosomes.

    Medical Definition of Deletion. Deletion: Loss of a segment of DNA from a chromosome. A chromosome deletion can cause disease.