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Duplication 18

Duplication 18: Introduction

Duplication 18: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Duplication 18 syndrome is more severe than the more common Down syndrome. Duplication 18 syndrome causes mental retardation and numerous physical defects that often cause an early infant death. The condition has variable severity depending on how many of the body's cells have the extra chromosome and how much of the extra chromosome is duplicated. In severe forms all cells have an extra copy of the complete chromosome 18 whereas milder forms may have only some cells having the extra chromosome. Other mild forms may have an extra copy of only part of chromosome 18 in some or all of the body cells. More detailed information about the symptoms, causes, and treatments of Duplication 18 is available below.

Symptoms of Duplication 18

Treatments for Duplication 18

  • Treatment varies depending on the symptoms which can vary quite considerably from case to case
  • Surgery may be needed to correct defects or abnormalities e.g. heart defects, cleft palate, hernia
  • Access to programs and services as required e.g. physical therapy, speech therapy, educational support, social, vocational and medical services
  • Various symptomatic and supportive measures as required
  • Genetic counseling and joining a support group is recommended
  • more treatments...»

Wrongly Diagnosed with Duplication 18?

Duplication 18: Complications

Review possible medical complications related to Duplication 18:

Causes of Duplication 18

  • A genetic defect where there are three copies of part or all of chromosome 18 instead of the normal two. Cases appear to be sporadic with no direct link to inheritance
  • more causes...»

More information about causes of Duplication 18:

Prognosis for Duplication 18

Prognosis for Duplication 18: The prognosis varies depending on the nature and severity of symptoms present in individual cases but most patients die before birth. Of those that survive the birth, only a small number will survive the first year of life. Survival into the teens does occur but patients often have severe health problems. Prompt diagnosis and appropriate treatment can improve prognosis and quality of life.

Statistics for Duplication 18

Duplication 18: Broader Related Topics

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Definitions of Duplication 18:

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Duplication 18 as a "rare disease".
Source - Orphanet

Related Duplication 18 Info

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More information about Duplication 18

  1. Duplication 18: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
  5. Complications
  6. Prognosis
 

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