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Rare Chromosome Disorders

Rare chromosome disorders include extra, missing or re-arranged chromosome material but do not include the more common chromosome conditions such as Down's Syndrome. Using the latest technology, it is now possible for smaller and more complex chromosome defects to be identified. 

Individually most chromosome disorders are rare but collectively they are numerous.

Rare chromosome disorders occur because of extra, missing or rearranged chromosomal material. This means that the genes, the instructions that should make our bodies work and develop properly, don’t function correctly. Some chromosomal disorders are so rare they are actually unique. This can lead to desperate feelings of isolation in affected families.

Support and information is available for people affected by a rare chromosomal disorder.

Here is a couple of short videos that might help you to understand what a Rare Chromosome Disorder is, and how Unique can help you.

Unique rare chromosome disorders awareness:

Dr. Beverly Searle - Unique (Rare Chromosome Disorder Support :

Useful websites

Smile Foundation:
Molloy's Voice – Rare Disease ( Cairns)
Unique:  Understanding the Rare Chromosone Disorders: