Angelman Syndrome – Symptoms and Causes

6Causes of Angelman Syndrome

Chromosome Deletions

The majority of Angelman syndrome cases are caused by chromosome deletions. This means an area in the maternal chromosome containing the UBE3A gene is deleted. Studies have shown that genetic microdeletions are basically abnormal processes and not hereditary. Chromosome deletions account for around 70 percent of cases. Among these, about 1 percent of cases have a rearrangement in the deleted chromosome region. More specifically, a part of the maternal chromosome 15 with the UBE3A gene is separated and reattached to another chromosome region. This interferes with the functions of other genetic materials, thus causing the syndrome. [6]

Related Articles

Causes of Spinal Muscular Atrophy

Ailments & Conditions
Spinal muscular atrophy is a progressive neurodegenerative condition. This rare genetic disease is often triggered by mutations or alterations in the genes that produce proteins required for motor neuron function. There are many forms of spinal muscular atrophy, which...

Klinefelter Syndrome – Facts to Know

Ailments & Conditions
What Is Klinefelter Syndrome? Klinefelter syndrome is a common genetic disorder. It leads to abnormal developments only in males. Currently, the average time to diagnose this condition is in the mid 30s. However, many people still remain undiagnosed during their...

Spinal Muscular Atrophy – Diagnosis & Treatments

Ailments & Conditions
Spinal muscular atrophy is a rare genetic condition that can affect motor neurons in your spinal cord. This leads to weakness or deterioration of the muscles needed for movement. In most cases, symptoms tend to occur at birth or...

Spinal Muscular Atrophy Symptoms

Ailments & Conditions
Spinal muscular atrophy or SMA is a genetic disease. It causes muscles to become emaciated and weak over time. Most cases can be diagnosed in young children or babies. Currently, there is still no cure for the condition. However,...

What is Marfan Syndrome?

Ailments & Conditions
What Is Marfan Syndrome? Marfan syndrome is a genetic connective tissue condition. It would affect the usual development of the body because connective tissue plays a key role in supporting the skeletal structure and other body parts. In addition, the...

What is Prader-Willi Syndrome – 10 Facts You Need to Know

Ailments & Conditions
What Is Prader-Willi Syndrome? Prader-Willi syndrome is a genetic condition that can be passed from parents to their children. It is mostly present at birth, but diagnosis usually does not occur until later stages in life. People with this disorder...

Williams Syndrome – Causes, Symptoms, Diagnosis & Treatment

Ailments & Conditions
Williams syndrome is a genetic condition characterized by many developmental issues. This syndrome is quite rare as it only occurs in approximately 1 in 10,000 people. A genetic link is often present in those with this health issue, but...

What is Fragile X Syndrome (FXS)

Ailments & Conditions
What Is Fragile X Syndrome? Fragile X syndrome, also called Martin-Bell syndrome, is a genetic disorder that leads to developmental and intellectual disabilities. It may be passed down to children from their mothers or fathers. It is the most common...