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Diseases » Monosomy 12p13 » Summary

What is Monosomy 12p13?

What is Monosomy 12p13?

  • Monosomy 12p13: A very rare chromosomal disorder where a portion of the short arm (p13) of chromosome 12 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms can vary amongst patients depending on the exact location and size of the genetic abnormality.

Monosomy 12p13 is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Monosomy 12p13, or a subtype of Monosomy 12p13, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Monosomy 12p13 as a "rare disease".
Source - Orphanet

Monosomy 12p13: Introduction

Types of Monosomy 12p13:

Broader types of Monosomy 12p13:

How serious is Monosomy 12p13?

Prognosis of Monosomy 12p13: 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.

What causes Monosomy 12p13?

Causes of Monosomy 12p13: see causes of Monosomy 12p13

What are the symptoms of Monosomy 12p13?

Symptoms of Monosomy 12p13: see symptoms of Monosomy 12p13

How is it treated?

Doctors and Medical Specialists for Monosomy 12p13: Medical Geneticist ; see also doctors and medical specialists for Monosomy 12p13.
Treatments for Monosomy 12p13: see treatments for Monosomy 12p13

Name and Aliases of Monosomy 12p13

Main name of condition: Monosomy 12p13

Other names or spellings for Monosomy 12p13:

Chromosome 12p partial deletion, 12p monosomy, partial, Deletion 12p12 p11, Deletion 12p13, Monosomy 12p11
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)


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