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Down Syndrome

Also called: Trisomy 21

- Summary
- About Down syndrome
- Types and differences
- Infant issues
- Childhood issues
- Adolescent issues
- Risk factors and causes
- Signs and symptoms
- Diagnosis methods
- Treatment and prevention
- Questions for your doctor

Reviewed By:
Rafiu Ariganjoye, M.D., MBA, FAAP
Robert Daigneault, M.D

Types and differences of Down syndrome

Down syndrome involves an abnormality in chromosome 21. Each person has 23 pairs of chromosomes in each body cell -- 22 regular pairs and one pair of sex chromosomes. The abnormality associated with Down syndrome and chromosome 21 can occur three ways:

  • Standard trisomy 21. Three entire copies of chromosome 21 occur in all the nonreproductive cells in a child's body. This form results from a problem that occurs during egg or sperm cell development. The vast majority of Down syndrome cases are of this type.

  • Translocation 21. Due to an abnormality in the genes of a parent or an error in egg or sperm cell development, an extra piece of chromosome 21 is attached to a different chromosome. The normal pair of chromosome 21 is still present. This is an uncommon form of Down syndrome.

  • Mosaic trisomy 21. Three entire copies of chromosome 21 occur in some, but not all, cells in the child's body. This is caused by a problem in embryo development after the sperm and egg have joined. It is a rare form of Down syndrome.

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Review Date: 07-21-2008
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