Diseases » Chromosome 12q duplication syndrome » Introduction

Chromosome 12q duplication syndrome

Chromosome 12q duplication syndrome: Introduction

Chromosome 12q duplication syndrome: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy. More detailed information about the symptoms, causes, and treatments of Chromosome 12q duplication syndrome is available below.

Symptoms of Chromosome 12q duplication syndrome

• Small head
• Long head
• Brachycephaly
• Prominent forehead
• Facial asymmetry
• more symptoms...»

See full list of 34 symptoms of Chromosome 12q duplication syndrome

Treatments for Chromosome 12q duplication syndrome

• Treatment varies depending on the type and severity of symptom that develop
• Surgery may be needed to correct defects or abnormalities e.g. imperforate anus
• Access to programs and services as required e.g. physical therapy, speech therapy, educational support, social, vocational and medical services
• Various symptomatic and supportive measures as required
• Genetic counseling and joining a support group is recommended
• more treatments...»

Read more about treatments for Chromosome 12q duplication syndrome

Wrongly Diagnosed with Chromosome 12q duplication syndrome?

• Failure to diagnose Chromosome 12q duplication syndrome
• Undiagnosed: Chromosome 12q duplication syndrome

Chromosome 12q duplication syndrome: Complications

Review possible medical complications related to Chromosome 12q duplication syndrome:

• Infant death
• more complications...»

Causes of Chromosome 12q duplication syndrome

Read more about causes of Chromosome 12q duplication syndrome.

Disease Topics Related To Chromosome 12q duplication syndrome

Research the causes of these diseases that are similar to, or related to, Chromosome 12q duplication syndrome:

• Brachycephaly
• Clinodactly
• Short neck
• Simian crease
• Hammer toes
• more related diseases...»

Less Common Symptoms of Chromosome 12q duplication syndrome

• Heart defects
• more symptoms...»

Read more about symptoms of Chromosome 12q duplication syndrome

Prognosis for Chromosome 12q duplication syndrome

Prognosis for Chromosome 12q duplication syndrome: The prognosis varies depending on the type and severity of symptoms that develop. Prompt diagnosis and appropriate treatment can improve prognosis and quality of life.

More about prognosis of Chromosome 12q duplication syndrome

Chromosome 12q duplication syndrome: Broader Related Topics

• Genetic conditions
• more types...»

Types of Chromosome 12q duplication syndrome

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Definitions of Chromosome 12q duplication syndrome:

Duplication of the long arm of chromosome 12 with craniofacial, skeletal, and cardiovascular abnormalities, sacral dimple, simian creases, and psychomotor retardation. - (Source - Diseases Database)

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