8p Disorders
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A group of genetic conditions due to chromosomal arrangements in the "p" region (short arm) of Chromosome 8​
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Causes of the errors are mainly unknown and non-inherited
- ​​Errors may be monosomy, trisomy, mosaicism, deletions, or duplications
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Chromosome 8 contains about 4.5-5.0% of total cellular DNA (between 700-1,400 genes) and may be responsible for the large size of the human brain
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Chromosomal disorders often affect all cells in the body
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Disorders that affect the entire chromosome 8 (p and q regions) include cleft lip/palate, Burkitt's lymphoma, Cohen syndrome, Werner syndrome, and many more​
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Affects about 350 people worldwide
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Symptoms vary widely and occur across a broad spectrum of severity
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Growth deficiency
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Cognitive impairments and intellectual disability
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Craniofacial malformations
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Associated conditions include congenital heart defects, epilepsy, autism, sensory processing disorders, and more
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​​No treatments or cure exists
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Interventions may include therapies (physical, speech, and occupational), mobility aids, communication aids, and more
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Sources