What is Intragenic deletion?

Intragenic homozygous deletions in the Large gene are associated with a severe neuromuscular phenotype in the myodystrophy (myd) mouse. These mutations result in a virtual lack of glycosylation of alpha-dystroglycan.

What is 16p12 2 deletion syndrome?

16p12. 2 microdeletion is a chromosomal change in which a small amount of genetic material on chromosome 16 is deleted . The deletion occurs on the short (p) arm of the chromosome at a location designated p12. 2. Common characteristics that have been described in people with a 16p12.

What is an example of a deletion syndrome?

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

What is a recurrent deletion?

The 17q12 recurrent deletion syndrome is characterized by variable combinations of the following three most common findings: kidney abnormalities including congenital abnormalities of the kidney and urinary tract (CAKUT) and tubulointerstitial disease, maturity-onset diabetes of the young (MODY), and neurodevelopmental …

What causes 13q deletion?

It is typically not hereditary— the loss of a portion of the chromosome typically occurs during gametogenesis, making it a de novo mutation. When it is hereditary, it is usually caused by a parent having mosaicism or a balanced translocation.

What does Intragenic mean?

or occurring within a gene
Definition of intragenic : being or occurring within a gene intragenic recombination intragenic mutation.

What is chromosome 16 deletion syndrome?

ATR-16 syndrome is an extremely rare genetic disorder in which affected individuals have a large loss of genetic material (monosomy) on chromosome 16 in which several adjacent genes are lost.

What diseases are caused by deletion mutations?

Deletions are responsible for an array of genetic disorders, including some cases of male infertility, two thirds of cases of Duchenne muscular dystrophy, and two thirds of cases of cystic fibrosis (those caused by ΔF508).

Which type of gene mutation cause the sickle cell Anaemia?

Mutations in the HBB gene cause sickle cell disease. The HBB gene provides instructions for making one part of hemoglobin. Hemoglobin consists of four protein subunits, typically, two subunits called alpha-globin and two subunits called beta-globin.

What causes 17p deletion?

Deletion of Chromosome 17p It is often associated with TP53 inactivating mutations [40,41]. This abnormality has a strong negative impact on prognosis. Indeed, it is particularly common in early relapsed patients after both conventional chemotherapy and high-dose therapy with autologous stem cell transplant [29].