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What is 17q12 deletion syndrome?

What is 17q12 deletion syndrome?

17q12 deletion syndrome is a chromosome abnormality in which there is a small missing piece (deletion) of genetic material on the long arm (q) of chromosome 17. Signs and symptoms can vary widely among people with this syndrome.

What happens if you are missing chromosome 17?

Deletion of a small amount of genetic material (a microdeletion) on chromosome 17 can cause Koolen-de Vries syndrome. This disorder is characterized by developmental delay, intellectual disability, a cheerful and sociable disposition, and a variety of physical abnormalities.

What is duplication chromosomal mutation?

​Duplication Duplication, as related to genomics, refers to a type of mutation in which one or more copies of a DNA segment (which can be as small as a few bases or as large as a major chromosomal region) is produced. Duplications occur in all organisms.

What does an extra chromosome 17 mean?

Potocki-Lupski syndrome is a condition that results from having an extra copy (duplication ) of a small piece of chromosome 17 in each cell. The duplication occurs on the short (p) arm of the chromosome at a position designated p11. 2. This condition is also known as 17p11. 2 duplication syndrome.

How common is 17q12 deletion syndrome?

The worldwide prevalence of 17q12 deletion syndrome is unknown, although the condition appears to be rare. One study estimated that 17q12 deletion syndrome occurs in 1 in 14,500 people in Iceland.

Is 22q a disability?

Many children with 22q11. 2 deletion syndrome have developmental delays, including delayed growth and speech development, and some have mild intellectual disability or learning disabilities. Older affected individuals have difficulty reading, performing tasks involving math, and problem solving.

What chromosome is associated with autism?

An extra copy of a stretch of genes on chromosome 22 may contribute to autism, according to the first study to carefully characterize a large group of individuals who carry this duplication1. The doubling can also lead to medical complications, such as vision or heart problems. The region, called 22q11.

What causes chromosomal duplication?

Often, these alterations happen due to errors during cell division when chromosomes align (Figure 1). Homologous recombination between areas of concentrated repeated sequences frequently creates deletions and duplications.

What is an example of duplication mutation?

One example of a rare genetic disorder of duplication is called Pallister Killian syndrome, where part of the #12 chromosome is duplicated.

What diseases are caused by chromosomal duplication?

Deletions, Duplications, and Disease

Genetic Disease Type of Rearrangement Location Affected
Charcot-Marie-Tooth disease type I Duplication 17p12
Hereditary neuropathy with pressure palsies Deletion 17p12
Smith-Magenis syndrome Deletion 17p11.2
Williams-Beuren syndrome Deletion 7q11.23

What diseases can duplication cause?

Some individuals with MECP2 duplication syndrome experience dysfunction of the immune system, which causes them to be prone to recurrent infections such as respiratory tract infections. Affected individuals may develop recurrent pneumonia that is sometimes severe requiring mechanical ventilation.

What is chromosome 17q12?

17q12 deletion syndrome is a condition that results from the deletion of a small piece of chromosome 17 in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q12. The signs and symptoms of 17q12 deletion syndrome vary widely, even among affected members of the same family.