Learning Objectives ;

In the end of the discussion ;

• Student will be able to elaborate what Jacobsen

Syndrome.
• Students must be enlightened about the misconception of
this syndrome.
• Students shall be able to determine the signs, symptoms and
how this syndrome present in human.
 2nd
year

JACOBSEN
SYNDROME
Bio Genetics
 The family where multiple people had the
disorder, and found that the affected children
had unbalanced translocation between
chromosome 11 and 21 which they had inherited
from one of their parents who had
balanced translocation. Since then, only 200
cases have been reported of Jacobsen
syndrome in medical literature.The syndrome
was first identified by Danish geneticist Petrea
Jacobsen in 1973 and was named after her. She
discovered it in a

Petrea Jacobsen
Danish Geneticist
Unbalance Translocation
What is Jacobsen Syndrome?
Jacobsen Syndrome is a rare congenital
condition that’s caused by the deletion of
several genes in chromosome 11.

It’s sometimes called partial monosomy

11q.It occurs in about
1 in 100,000 newborns.
 • Jacobsen syndrome often causes:
• birth defects
• behavioral problems
• impairment of memory and thinking skills

• Jacobsen syndrome is also associated with autism. It can

result in a number of serious health complications.
One of the initial symptoms parents may notice is abnormally slow
growth, both in the womb and after birth. Many people with Jacobsen
syndrome will be shorter than average at their adult height. They may
also have macrocephaly, or a larger-than-average head size.
Trigonocephaly is another common symptom. This gives the
forehead a pointed look.
Other physical symptoms include distinctive facial features. These include:

 a broad nasal bridge

 small and low-set ears
 downturned corners of the mouth
 a thin upper lipa
 a small lower jaw
 skin folds covering the inner corners of the eyes

Many people with Jacobsen syndrome will have cognitive impairment. This can translate to
delayed development, including the development of both speech and motor skills. Some infants
will have difficulty feeding. Many will also have learning disabilities, which may be severe.
Behavioral problems are also symptoms associated with Jacobsen syndrome. These can be
related to compulsive behavior, easy distractibility, and a short attention span. Many patients have
both Jacobsen syndrome and ADHD. It’s also associated with autism.
 Most cases of Jacobsen syndrome are not inherited. They result from
a chromosomal deletion that occurs as a random event during the formation of
reproductive cells (eggs or sperm) or in early fetal development. Affected people
typically have no history of the disorder in their family, although they can pass the
chromosome deletion to their children.

Treatment for Jacobsen Syndrome is based on the symptoms present and may include:

 A team of qualified specialists from various disciplines such as speech therapy, behavioral therapy,
cardiology, neurology, and ophthalmology
 Regular monitoring and blood transfusions for low platelet count
 Contact lenses, glasses, and surgery for eye abnormalities and visual problems
 Medications and surgery for heart defects
 Physical therapy and orthopedic devices for skeletal abnormalities
 Misconception about Jacobsen
Syndrome:

● Once a parent has one of the symptomps of

Jacobsen, then the offspring might inherit
the said disorder.

● That this kind of disorder is due to the bad

karma of the offspring parents.

● it’s due to some small concusions which

produce this kind of disorder.