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Jacobsen's syndrome is caused by a loss of genetic material from chromosome 11. It is also known as 11q terminal deletion disorder.It is called as such because deletion occurs at the end of the long arm of chromosome of 11. It causes problem in heart and a bleeding disorder. It is also characterised by special facial features. Nose becomes upturned, droopy eyelids, small lower jaw and lips curve inward. wide set eyes, low platelets and large toes are common features. In most cases it is not inherited diseases. They result from chromosomal deletion.
A condition caused by a loss of genetic material from chromosome 11.
Symptoms include heart problems, speech and language problems, specific facial characteristics and mild to severe mental retardation.
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