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Jacobsen syndrome
What are the causes?
It 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. Genes are 'strung' along chromosomes rather like beads are strung along a necklace. In each cell, there are twenty-three pairs of chromosomes. The body needs a full compliment of chromosomes for normal health and development. Sperm and ova ('egg cells') carry one representative of each chromosome and at fertilisation fuse to create a baby with the full number of chromosomes shared equally from both parents. 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 occurs more frequently in females than males.
What are the symptoms?
| Inheritance patterns and prenatal diagnosis 
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