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 Welcome to our website
What is Jacobsen's Syndrome?
Jacobsen's Syndrome (11q Deletion or 11q-) is a rare chrome disorder in which a portion of the 11th chromosome is missing. It affects about one in every 100,000 births. People who have this disorder may have heart problems, speech and language problems, specific facial characteristics, and mild to severe mental retardation, although many children with Jacobsen's are extremely capable.
Jacobsen Syndrome is caused by the loss of a small portion of a chromosome at conception. A chromosome is made up of DNA code in a thread-like structure present in the nucleus of most cells in the body. The DNA code in turn carry genes which are the all important instructions about how each cell in the body should divide, grow and die. In each cell, there are 23 pairs of chromosomes. The body needs all 23 pairs for normal health and development. In Jacobsen Syndrome a small piece of the 11th chromosome is missing (or deleted) and this causes a range of clinical features in individuals with this condition. The features are related to the genes that are absent from the small piece of chromosome 11 that is missing. The reason for the loss of the piece of chromosome is not fully understood. Jacobsen syndrome tends to occur more frequently in females than in males.
Children who have Jacobsen's Syndrome may have some of a number of symptoms, including heart problems, speech and language problems, specific facial characteristics and mild to severe mental retardation. They often have ptosis (droopy eyes) and a broad bridge between the eyes, can have problems with kidneys, heart, (ear-)infections and blood platelets. The mental level differs: there are children with mild to severe mental handicaps. This depends probably of length and place of the missing piece of the chromosome.
If you or someone else thinks your child may be delayed, it is important to seek an assessment at as young an age as possible. Children with Jacobsen's Syndrome and other developmental delays may benefit from early intervention services, therapies, educational interventions and other support services that may require a diagnosis in order to be eligible for those services.
Some other terms or diagnoses for Jacobsen's Syndrome (JBS) include:
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chromosome 11q deletion syndrome
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11q- syndrome
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11q deletion syndrome
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chromosome 11q monosomy
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del(11q) syndrome
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deletion 11q syndrome
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monosomy 11q
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partial monosomy 11q
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Eleventh Chromosome Abnormalities
Treatment
The physical and mental development of children with chromosome 11 anomalies differs from child to child. However, as with any special needs child, the importance of early diagnosis and interventions in supporting the development of the child with Jacobsen's Syndrome cannot be understated. Children with Jacobsen's may benefit from a variety of supports, interventions, therapies and services, depending on the impact of their disability on their development.
Brief History
The first case was reported in 1973 by Dr. Jacobsen. It described a family with multiple members with balanced, and unbalanced translocations. The first case is now about 46 years-old, living in a group home in Denmark. Dr. Jacobsen died a few years ago.
All information above is from the 11q research and resource group website follow the link below to check it out!
http://www.11qusa.org
The following link is to the yahoo group for Jacobsen's it has message boards, links and photo's as well.
http://health.groups.yahoo.com/group/11q_disorders
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