What are the symptoms of 2q37 deletion syndrome?

What are the symptoms of 2q37 deletion syndrome?

This condition is characterized by short stature , weak muscle tone ( hypotonia ) in infancy, mild to severe intellectual disability and developmental delay , autistic behavior, obesity, characteristic facial features, and other physical abnormalities, such as short bones of the hand and of 3-5 fingers, and abnormal …

What is deletion in karyotype?

In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is left out during DNA replication. Any number of nucleotides can be deleted, from a single base to an entire piece of chromosome.

How can a chromosome deletion be detected?

Postnatal diagnosis is suspected by clinical appearance and is confirmed by karyotyping, if the deletion is relatively large, or by other cytogenetic techniques such as fluorescent in situ hybridization or microarray analysis.

What causes chromosome deletion syndrome?

1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. Most cases are not inherited ; only about 20% of the cases of people with 1p36 deletion syndrome inherit the chromosome with a deleted segment from an unaffected parent.

What is an interstitial deletion?

An interstitial deletion results after two breaks are induced if the terminal part (more…) The effects of deletions depend on their size. A small deletion within a gene, called an intragenic deletion, inactivates the gene and has the same effect as other null mutations of that gene.

What disorder is caused by chromosomal deletion?

Examples of chromosomal deletion syndromes include 5p-Deletion (cri du chat syndrome), 4p-Deletion (Wolf-Hirschhorn syndrome), Prader–Willi syndrome, and Angelman syndrome.

What does it mean to have 2q37 deletion syndrome?

2q37 deletion syndrome 2q37 deletion syndrome 2q37 deletion syndrome is a well defined chromosome condition. People with the syndrome have lost a small but variable amount of genetic material (DNA) from near the end of one of their two chromosome 2s.

Where does the chromosome break in 2q37.1?

The chromosome can break anywhere in the bands called 2q37.1, 2q37.2 or 2q37.3 so people have different sized pieces of chromosome missing. A normal variant in the general populationA normal variant in the general population

Can a chromosome deletion be inherited from a parent?

Most individuals with the 2q37 deletion syndrome have a de novo chromosome deletion and their parents have normal chromosomes. In about 5% of published cases, patients have inherited the deletion from a parent who has a balanced translocation.

What does del ( 2 ) mean on chromosome 2?

46,XY,del(2)(q37.1) This result shows that the expected number of chromosomes [46 ] were found. It also shows that an X and a Y chromosome were found, so this is a boy or man. del(2) means there is a deletion from chromosome 2.