What is Down syndrome?

A Chromosomal Disorder

Down syndrome is the most frequent genetic cause of mild to moderate mental retardation and associated medical problems and occurs in one out of 691 live births, in all races and economic groups. Named after John Langdon Down, the first physician to identify the cell abnormality, Down syndrome is a chromosomal disorder caused by an error in cell division that results in the presence of a third chromosome 21 or “Trisomy 21.”

Chromosome 21

In every cell in the human body there is a nucleus, where genetic material is stored in genes.  Genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structures called chromosomes.  Normally, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent.

Down syndrome is usually caused by an error in cell division called "nondisjunction."  Nondisjunction results in an embryo with three copies of chromosome 21 instead of the usual two.  Prior to or at conception, a pair of 21st chromosomes in either the sperm or the egg fails to separate.  As the embryo develops, the extra chromosome is replicated in every cell of the body.  This type of Down syndrome, which accounts for 95% of cases, is called Trisomy 21. 
  
The two other types of Down syndrome are called mosaicism and translocation.  Mosaicism occurs when nondisjunction of chromosome 21 takes place in one-but not all-of the initial cell divisions after fertilization.  When this occurs, there is a mixture of two types of cells, some containing the usual 46 chromosomes and others containing 47.  Those cells with 47 chromosomes contain an extra chromosome 21.  Mosaicism accounts for about 1% of all cases of Down syndrome.  Research has indicated that individuals with mosaic Down syndrome may have fewer characteristics of Down syndrome than those with other types of Down syndrome.  However, broad generalizations are not possible due to the wide range of abilities people with Down syndrome possess. 
  
Translocation accounts for about 4% of all cases of Down syndrome.  In translocation, part of chromosome 21 breaks off during cell division and attaches to another chromosome, typically chromosome 14.  While the total number of chromosomes in the cells remain 46, the presence of an extra part of chromosome 21 causes the characteristics of Down syndrome. 
  
Regardless of the type of Down syndrome a person may have, all people with Down syndrome have an extra, critical portion of chromosome 21 present in all or some of their cells.  This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome.  
   
The cause of nondisjunction is currently unknown, but research has shown that it increases in frequency as a woman ages.  However, due to higher birth rates in younger women, 80% of children with Down syndrome are born to women under 35 years of age.  There is no definitive scientific research that indicates that Down syndrome is caused by environmental factors or the parents' activities before or during pregnancy. 
  
Once a woman has given birth to a baby with Trisomy 21, it is estimated that her chances of having another baby with Trisomy 21 is 1% greater than her chances by age alone.

The age of the mother does not seem to be linked to the risk of translocation.  Most cases are sporadic-that is, chance events.  However, in about one third of cases, one parent is a carrier of a translocated chromosome.  The risk of recurrence of translocation is about 3% if the father is the carrier and 10-15% if the mother is the carrier.  Genetic counseling can determine the origin of translocation.


Down Syndrome Research

Recently, a paper was published in the journal Nature by Letourneau and colleagues (2014) from the University of Geneva that raised a lot of discussion on social media, particularly on our local DSAGC Facebook page. Campbell K Brasington, MS, CGC is a genetic counselor at Levine Children’s Hospital, Carolinas Medical Center, Charlotte, NC.  Ms. Brasington wanted to explain in basic terms what the results of this study mean to her as a clinical genetics provider (someone who sees individuals with Ds in the clinic) and how this might translate into current and future research directions.

Read the full article by clicking HERE.

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