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- Genes and genetics explained
Children inherit physical characteristics such as eye colour from their parents through their genes.
- Prader-Willi syndrome
A feature of Prader-Willi syndrome is the child's excessive appetite, which often leads to obesity.
- Phenylketonuria (PKU)
PKU is an inherited disorder that prevents the normal breakdown of a protein found in some foods.
- Genetic testing for inherited cancer
A predisposition to certain cancers can be inherited via altered genes.
- Thalassaemia
Thalassaemia is an inherited blood disorder that can cause anaemia or death if not treated.
- Genetic conditions
Genetic conditions are caused by an altered or faulty gene or set of genes.
- Spinal muscular atrophy (SMA)
A child with spinal muscular atrophy type 1 rarely lives beyond three years of age.
- Muscular dystrophy
People affected by muscular dystrophy have different degrees of independence, mobility and carer needs.
- Kabuki syndrome
Kabuki syndrome affects males and females equally and there is no cure.
- Turner's syndrome
Turner's syndrome is a random genetic disorder that affects females, causing short stature and infertility.