Jacobsen syndrome is a condition caused by a loss of genetic material from chromosome 11. Because this deletion occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder.
The signs and symptoms of Jacobsen syndrome vary considerably. Most affected individuals have delayed development, including the development of motor skills (such as sitting, standing, and walking) and speech. Most also have cognitive impairment and learning difficulties. Behavioral problems have been reported, including compulsive behavior (such as shredding paper), a short attention span, and easy distractibility. Many people with Jacobsen syndrome have been diagnosed with attention deficit-hyperactivity disorder (ADHD).
Jacobsen syndrome is also characterized by distinctive facial features. These include small and low-set ears, widely set eyes (hypertelorism) with droopy eyelids (ptosis), skin folds covering the inner corner of the eyes (epicanthal folds), a broad nasal bridge, downturned corners of the mouth, a thin upper lip, and a small lower jaw. Affected individuals often have a large head size (macrocephaly) and a skull abnormality called trigonocephaly, which gives the forehead a pointed appearance.
More than 90 percent of people with Jacobsen syndrome have a bleeding disorder called Paris-Trousseau syndrome. This condition causes a lifelong risk of abnormal bleeding and easy bruising. Paris-Trousseau syndrome is a disorder of platelets, which are blood cell fragments that are necessary for blood clotting.
Other features of Jacobsen syndrome can include heart defects, feeding difficulties in infancy, short stature, frequent ear and sinus infections, and skeletal abnormalities. The disorder can also affect the digestive system, kidneys, and genitalia. The life expectancy of people with Jacobsen syndrome is unknown, although affected individuals have lived into adulthood
Jacob's Syndrome, or XYY Syndrome was first discovered by cytogeneticists Joe Hin Tjio and Albert Levan.
The Koro syndrome is a culture-specific syndrome. The individual with Koro syndrome has an overpowering belief that his or her genitals are retracting and disappearing.
* Down Syndrome -- an extra 21st chromosome* Angelman Syndrome -- an absence of chromosome #15 in the brain* Fragile X Syndrome -- a deficiency in one of the x chromosomes* Rett Syndrome -- deletion of an entire x chromosome (mainly strikes females)* Patau Syndrome -- tripling of chromosome #13 (infants appear mutilated)
Down syndrome
You may be thinking of the Dorothy Lack syndrome which many people call the White Coat Syndrome.
Jacob's Syndrome, or XYY Syndrome was first discovered by cytogeneticists Joe Hin Tjio and Albert Levan.
No. Jacobsen cannot be prevented. This syndrome happeneds randomly while conceiving the baby.
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Paula Jacobsen has written: 'Understanding how Asperger children and adolescents think and learn' -- subject(s): Asperger's syndrome, Education, Learning disabled children, Patients
It as first discovered by Danish physician Petra Jacobsen. It was discovered through genetic testing of children, thought to have genetic disorders. Its also referred to as 11q terminal deletion disorder
Jacobsen symptom is neither dominant nor recessive because it is not a sex-linked disorder. This disorder is a mutation, specifically a partial deletion. Part of the long arm (q) of chromosome 11 is deleted.
Glenn Jacobsen's birth name is Glenn Jacobsen.
Edvard Jacobsen's birth name is Edvard Valdemar Jacobsen.
Tony Jacobsen's birth name is Anthony R. Jacobsen.
Benjamin Jacobsen's birth name is Benjamin Johan Eduard Jacobsen.
Arne Jacobsen has written: 'Arkitekten Arne Jacobsen, 1902-71'
Trevor Jacobsen is an advertising executive.