What is Chromosome 12q duplication syndrome?

What is Chromosome 12q duplication syndrome?

• 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.
• 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

Chromosome 12q duplication syndrome: Introduction

Types of Chromosome 12q duplication syndrome:

Broader types of Chromosome 12q duplication syndrome:

• Genetic conditions
• more types...»

How serious is Chromosome 12q duplication syndrome?

Prognosis of 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.
Complications of Chromosome 12q duplication syndrome: see complications of Chromosome 12q duplication syndrome

What causes Chromosome 12q duplication syndrome?

Causes of Chromosome 12q duplication syndrome: see causes of Chromosome 12q duplication syndrome

What are the symptoms of Chromosome 12q duplication syndrome?

Symptoms of Chromosome 12q duplication syndrome: see symptoms of Chromosome 12q duplication syndrome

Complications of Chromosome 12q duplication syndrome: see complications of Chromosome 12q duplication syndrome

How is it treated?

Doctors and Medical Specialists for Chromosome 12q duplication syndrome: Medical Geneticist ; see also doctors and medical specialists for Chromosome 12q duplication syndrome.
Treatments for Chromosome 12q duplication syndrome: see treatments for Chromosome 12q duplication syndrome

Name and Aliases of Chromosome 12q duplication syndrome

Main name of condition: Chromosome 12q duplication syndrome

12q+ syndrome, 12q duplication syndrome, chromosome 12q trisomy, dup (12q) syndrome, duplication 12q syndrome, partial trisomy 12q, trisomy 12q

Chromosome 12q duplication syndrome: Related Conditions

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
• Short arms
• Epicanthal folds
• Facial asymmetry

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