Phenotypes Associated with Down Syndrome and Causative Genes
Down syndrome (DS) is the most common chromosomal condition associated with mental retardation and is characterized by a variety of additional clinical findings. It occurs in approximately 1 of 800 births worldwide. DS is associated with number of phenotypes including heart defects, leukemia, Alzhei...
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| Main Author: | |
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| Format: | Book Chapter |
| Language: | English |
| Published: |
IntechOpen
2022
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| Subjects: | |
| Online Access: | https://www.intechopen.com/chapters/75423 |
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| Summary: | Down syndrome (DS) is the most common chromosomal condition associated with mental retardation and is characterized by a variety of additional clinical findings. It occurs in approximately 1 of 800 births worldwide. DS is associated with number of phenotypes including heart defects, leukemia, Alzheimer’s disease, hypertension etc. Individuals with DS are affected by these diseases to variable rates, so understanding the reason for this variation is an important challenge. Multiple genes located both on chromosome 21 and other regions of the genome such as the polymorphism of the amyloid precursor protein (APP) gene contribute to clinical variations. Information on these genetic variations allows early diagnosis and treatment of phenotypes associated with DS. In this chapter, an overview of disease management will be provided by reviewing the genes or miRNAs that cause DS-associated phenotypes. |
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| ISBN: | 978-1-83969-364-9 |
| DOI: | 10.5772/intechopen.96290 |