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What is Chromosome 12 ring syndrome?

What is Chromosome 12 ring syndrome?

  • Chromosome 12 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 12 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
  • Chromosome 12 ring syndrome: An abnormality in which both ends of a chromosome have been lost (deletion) and the two broken ends reunited to form a ring-shaped figure. Abnormalities include short stature, microcephaly, mental deficiency, characteristic facies, highly arched palate, clinodactyly, and other defects.
    Source - Diseases Database

Chromosome 12 ring syndrome: Introduction

Types of Chromosome 12 ring syndrome:

Broader types of Chromosome 12 ring syndrome:

How serious is Chromosome 12 ring syndrome?

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

What causes Chromosome 12 ring syndrome?

Causes of Chromosome 12 ring syndrome: see causes of Chromosome 12 ring syndrome

What are the symptoms of Chromosome 12 ring syndrome?

Symptoms of Chromosome 12 ring syndrome: see symptoms of Chromosome 12 ring syndrome

How is it treated?

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

Name and Aliases of Chromosome 12 ring syndrome

Main name of condition: Chromosome 12 ring syndrome

Other names or spellings for Chromosome 12 ring syndrome:

12 ring syndrome, r(12) syndrome, ring chromosome 12, Chromosome 12 ring

Chromosome 12 ring syndrome: Related Conditions

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

 

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