What causes chromosome 3 deletion?

3p deletion syndrome is caused by deletion of the end of the small (p) arm of chromosome 3. The size of the deletion varies among affected individuals, ranging from approximately 150,000 DNA building blocks (150 kilobases or 150 kb) to 11 million DNA building blocks (11 megabases or 11 Mb).

What gene or chromosome is affected by Alfi’s syndrome?

Alfi’s Syndrome is also called Chromosome 9p deletion, because some of the genetic material on the short arm of chromosome 9 is not there, causing medical problems from head to toe.

What is a microdeletion syndrome?

Description. Collapse Section. 5q31. 3 microdeletion syndrome is a condition characterized by severely delayed development of speech and motor skills, such as walking. Beginning in infancy, affected individuals also have weak muscle tone (hypotonia), feeding difficulties, and breathing problems.

How common is micro deletion?

Microdeletions are mostly spontaneous and occur in approximately 5% of patients with unexplained mental retardation [2,3]. They are frequently associated with multiple congenital anomalies and developmental delay [4,5]. The most common microdeletion syndromes are DiGeorge syndrome (22q11.

What is chromosome 3 disorder?

Chromosome 3, Trisomy 3q2 is a rare chromosomal disorder in which a portion of the 3rd chromosome appears three times (trisomy) rather than twice in cells of the body. Associated symptoms and findings may be variable, depending upon the specific length and location of the duplicated (trisomic) portion of chromosome 3.

Is there a cure for Alfi’s syndrome?

The vital prognosis is relatively favorable, especially in patients without serious heart defects. There is no cure for this syndrome. Patients may need neurosurgery for correction of the skull defect, and rarely – heart surgery.

What population is affected by Alfi’s syndrome?

Alfi’s syndrome is a rare chromosomal disorder that has only affected about 250 people in the entire world.

Are microdeletions inherited?

1 microdeletion is inherited in an autosomal dominant pattern, which means that missing genetic material from one of the two copies of chromosome 1 in each cell is sufficient to increase the risk of delayed development, intellectual disability, and other signs and symptoms.