Jacobsen Syndrome

Jacobsen Syndrome

Genes

Cures

Effects

Jacobsen Syndrome

• Caused when chromosome 11 loses genetic materials
• The genetic materials are deleted on chromosome 11 at the end of the long (q) arm.

Cause

Other names for the Jacobsen Syndrome are...

• 11q deletion syndrome.
• Jacobsen thrombocytopenia

Note: There are many variations of the first name listed.

Jacobsen Syndrome is inherited when a set of chromosomes is balanced but switched around becomes unbalanced

• Usually is not transmitted to offspring

Inheritance

Chromosome 11

Sources

• "Jacobsen Syndrome." Genetics Home Reference. N.p., n.d. Web. 01 May 2015.
• "Jacobsen Syndrome | Disease | Overview | Office of Rare Diseases Research (ORDR-NCATS)." Jacobsen Syndrome | Disease | Overview | Office of Rare Diseases Research (ORDR-NCATS). N.p., n.d. Web. 01 May 2015.
• "Chromosome 11, Partial Monosomy 11q." Rare-diseases — National Organization for Rare Disorders. N.p., n.d. Web. 01 May 2015.

• Chromosome 11 is the first chromosome that is affected.

Continued...

• "Jacobsen Syndrome | Disease | Synonyms | Office of Rare Diseases Research (ORDR-NCATS)." Jacobsen Syndrome | Disease | Synonyms | Office of Rare Diseases Research (ORDR-NCATS). N.p., n.d. Web. 01 May 2015.
• "Jacobsen Syndrome." Healthline. N.p., n.d. Web. 01 May 2015.
• "Jacobsen Syndrome | Congenital Disorder." Jacobsen Syndrome | Congenital Disorder. N.p., n.d. Web. 01 May 2015.
• "A Link Between Jacobsen Syndrome and Autism - ScienceBlog.com."ScienceBlogcom. N.p., 13 Sept. 2014. Web. 01 May 2015.

Sources

Chromosomes

There are many symptoms for the Jacobsen Syndrome.

Delayed Development

Thanks for watching!!!

Congenital Defects and Common Illnesses

Other common issues include...

• heart defects and congenital heart disease
• kidney defects
• gastrointestinal abnormalities
• eating difficulties and failure to thrive(may have to be fed by tube resulting in problems gaining weight and growing normally)
• otitis media and frequent ear infections and sinusitis and recurrent respiratory infections
• genitalia abnormalities

• central nervous system defects
• brain and spinal function(impaired intelligence, learning, speech, and motor skills)
• problems speaking, walking, standing, and sitting normally
• Behavioral problems may occur later such as compulsive behavior, short attention span, easily distracted

Continued...

Prevention

Symptoms

Wide range of symptoms are caused by this disorder.

Population

• short build and skull abnormalities(large-size head= Macrocephaly, pointed forehead= Trigonocephaly)
• Facial Deformities
• -wide-set eyes (hypertelorism)
• -droopy eyelids (ptosis)
• -skin covering inner corners of the eyes (epicanthal folds)
• -broad nasal bridge
• -V-shaped mouth
• -small lower jaw
• -small low-set ears that are rotated backwards

• 200 reported people have Jacobsen Syndrome.
• 1 in 100,000 newborns have this disorder

Congenital Defects and Common Illnesses

Jacobsen Syndrome is diagnosed at birth and therefore it cannot be prevented.

Prevention

Children

May Also Have...

• Paris-Trousseau- 90% of people with Jacobsen Syndrome also have Paris-Trousseau which prevents blood clotting.
• ADHD- Kids may also have ADHD if they have Jacobsen Syndrome

Testing

Cures

Auditory Tests

There are a couple ways of identifying this disorder.

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= Prenatal tests are tests that given during pregnancy.

Testing after birth

Multiple tests can be taken at birth or in early childhood.

They include...

• blood tests
• auditory tests
• endocrine and immunological tests

• Prenatal tests are available for this disorder.
• Prenatal tests can be a cytogenetic analysis which is a type of a chromosome test that confirms a diagnosis.
• These tests require taking samples of amniotic fluid or chorionic villus from a pregnant mother’s placenta(circular organ in uterus of pregnant mammal, which nourishes and maintains the fetus).
• -There is a risk in this test and it is of miscarriage(spontaneous abortion).

Prenatal Tests

There is no cure for Jacobsen Syndrome but there are for its many symptoms. Pediatricians,

pediatric cardiologists,

neurologists,

ophthalmologists,

and orthopedic specialists

are often necessary for someone with Jacobsen Syndrome so they can control

their symptoms.

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Blood tests

Future

and Coming Cures

A cure will most likely not coming in the future because the disorder is random.

Research Status

Recent News:

Researchers were told by parents of children with Jacobsen Syndrome that their children have shown signs of Autism. 17 children with Jacobsen Syndrome where tested and 8 met the criteria for autism.

• This new link was one of the most

recent news for this rare disorder.

By: Krystofer Han and Sahil Patel