Chromosome 1p36 deletion syndrome

Overview

What is chromosome 1p36 microdeletion syndrome?

Chromosome 1p36 microdeletion syndrome is a disorder that causes many birth defects. It also causes intellectual delay. People with this disorder usually have many symptoms. These symptoms can include

  • developmental delay
  • behavior problems
  • growth problems
  • brain abnormalities
  • seizures
  • weak muscles (hypotonia)
  • unusual facial features
  • vision and hearing problems
  • skeletal defects
  • heart defects
  • kidney defects
  • defects of the penis or vagina
  • digestion problems

This disorder occurs when a piece of genetic information is missing. All of our genetic information is packaged into 23 structures called chromosomes. We have two of each chromosome. In this disorder, a piece of chromosome number 1 is missing. This is called a deletion. The size of the deletion is different in each person. Since each person with this condition has a different sized deletion, the symptoms can vary. Medical geneticists are a type of doctor who treat and diagnose genetic disorders. To find a medical geneticst near you, visit the Genetic Services Search Engine on the American College of Medical Genetics website.

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