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What is Chromosome 14 uniparental disomy syndrome?

What is Chromosome 14 uniparental disomy syndrome?

  • Chromosome 14 uniparental disomy syndrome: A rare chromosomal disorder where two homologues are obtained from one parent.
  • Chromosome 14 uniparental disomy syndrome: Presence of two homologues derived from one parent in a diploid offspring. Hydrocephalus, delayed development, small hands, and hyperextensible joints are the main features. Cases in which two homologues are derived from the mother are known as maternal uniparental disomy (mUPD) syndrome.
    Source - Diseases Database

Chromosome 14 uniparental disomy syndrome: Introduction

Types of Chromosome 14 uniparental disomy syndrome:

Broader types of Chromosome 14 uniparental disomy syndrome:

What causes Chromosome 14 uniparental disomy syndrome?

Causes of Chromosome 14 uniparental disomy syndrome: see causes of Chromosome 14 uniparental disomy syndrome

What are the symptoms of Chromosome 14 uniparental disomy syndrome?

Symptoms of Chromosome 14 uniparental disomy syndrome: see symptoms of Chromosome 14 uniparental disomy syndrome

Chromosome 14 uniparental disomy syndrome: Testing

Diagnostic testing: see tests for Chromosome 14 uniparental disomy syndrome.

Misdiagnosis: see misdiagnosis and Chromosome 14 uniparental disomy syndrome.

How is it treated?

Doctors and Medical Specialists for Chromosome 14 uniparental disomy syndrome: Medical Geneticist ; see also doctors and medical specialists for Chromosome 14 uniparental disomy syndrome.
Treatments for Chromosome 14 uniparental disomy syndrome: see treatments for Chromosome 14 uniparental disomy syndrome

Name and Aliases of Chromosome 14 uniparental disomy syndrome

Main name of condition: Chromosome 14 uniparental disomy syndrome

Other names or spellings for Chromosome 14 uniparental disomy syndrome:

uniparental disomy (UPD) of chromosome 14

Chromosome 14 uniparental disomy syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Chromosome 14 uniparental disomy syndrome:

 

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