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Chromosome 8p inverted duplication syndrome

Chromosome 8p inverted duplication syndrome: Introduction

Chromosome 8p inverted duplication syndrome: A rare chromosomal disorder involving the inverted duplication of the short arm (p) of chromosome 8 resulting in three copies of the genetic material instead of the normal two. The type and severity of symptoms is determined by the location and size of the duplication. More detailed information about the symptoms, causes, and treatments of Chromosome 8p inverted duplication syndrome is available below.

Symptoms of Chromosome 8p inverted duplication syndrome

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Causes of Chromosome 8p inverted duplication syndrome

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Definitions of Chromosome 8p inverted duplication syndrome:

Inverted duplication of the short arm of chromosome 8. Orofacial anomalies, consisting of a prominent forehead, highly arched palate, large mouth with a thin upper lip, malformed ears, broad nasal bridge, occur in association with mental retardation, skeletal abnormalities, and joint laxity. Various dermatologic, cardiac, ophthalmologic, and other abnormalities may occur. Phenotypic expression is determined by different breakpoints. - (Source - Diseases Database)

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More information about Chromosome 8p inverted duplication syndrome

  1. Chromosome 8p inverted duplication syndrome: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
 

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