Question

What is Jacobsen syndrome?

Answer 1

The lack of genetic material at the end of chromosome 11's long (q) arm causes Jacobsen syndrome. The size of the deletion varies from person to person, with the majority lacking between 5 million and 16 million DNA building blocks (also written as 5 Mb to 16 Mb).

Complete answer:
Jacobsen syndrome is a rare congenital disorder caused by chromosome 11 gene deletions. Partial monosomy 11q is another name for it. It affects approximately one out of every 100,000 newborns.
Jacobsen Syndrome often causes:
- Birth defects
- Behavioral issues
- Impairment of memory and thought skills

Jacobsen syndrome is also linked to autism. It could lead to a number of serious health problems. Signs and symptoms of Jacobsen Syndrome vary greatly. Most affected individuals delayed development, including the development of speech and motor skills (such as sitting, standing, and walking). Most of them also have cognitive impairment and learning difficulties. Behavioral problems have been reported, including compulsive behaviour (such as paper shredding), short attention span, and easy distractibility.

Most cases of Jacobsen syndrome are not hereditary. Only 5 to 10% of cases occur when the child inherits the disorder from the unaffected parent. These parents have genetic material that has been rearranged but is still present in chromosome 11. It's called a balanced translocation. If Jacobsen syndrome is inherited, parents are at slightly higher risk of having another child with conditio.

Girls are twice as likely to develop this syndrome as boys. Jacobsen syndrome can be difficult to diagnose in some cases. It's because it's both a genetic condition and a rare one. Genetic testing is needed to confirm a diagnosis of Jacobsen Syndrome.

Jacobsen syndrome may be diagnosed during pregnancy. If the ultrasound flags anything abnormal, further testing may be performed. A blood sample may be taken and analysed from the mother.

Note:
Since Jacobsen Syndrome has no cure, care would concentrate on improving the child's general health.Treatment will focus on addressing health complications that arise and helping the child to reach developmental milestones. The life expectancy of children with this condition is unknown, but individuals may and may have lived in adulthood. Many adults with Jacobsen Syndrome can live happily