Main idea
Supporting details
(1) Is there a possiblity that in the future, scientist would be able to go through every cell and get
rid of the extra X chromosome? It makes sense that it is not possible yet becuase there are just
so many cells in the human body, that it may not be worth going through all of the cells to get rid
of the extra X chromosome.
Boyse, Kyla, and Autumn Tansky. "University of Michigan Health System." Triple X (XXX)
Syndrome: Your Child:. U­M Pediatrics, Jan. 2013. Web. 28 Jan. 2014.
XXX Syndrome (Trisomy X)
What is XXX or Triple X syndrome?
XXX syndrome (also called Trisomy X or Triple X) is caused by the presence of an extra ‘X’
chromosome in every cell. Typically, a female has two X chromosomes in every cell of their
body, so the extra ‘X’ is unusual. The extra ‘X’ chromosome is typically inherited from the mother,
but is a random event—not caused by anything she did or could prevent. Trisomy X is often not
diagnosed until later in life, if ever. The risk of having a second child with an extra chromosome
is approximately 1%, until mom is older than 38 years of age, as it is thought that this random
event becomes more common as a woman ages. Prenatal testing is available in future
pregnancies.
How common is Trisomy X?
The extra ‘X’ chromosome occurs in about one in every 1,000 newborn girls.
What are the features of Triple X syndrome?
Many girls and women with Triple X have no signs or symptoms. Signs and symptoms vary a lot
between individuals, but can include:
Physical:
Tall stature (height)
Possible mild facial characteristics: increased width between eyes, skin fold at inner eyelid
(epicanthal fold), proportionately smaller head size
Developmental:
Learning disabilities (70%): Normal IQ, but may be 10­15 points below siblings
Speech and language delays (50%)
Delayed motor skills: poor coordination, awkwardness, clumsiness
Behavioral: introverted, difficulty with interpersonal relationships
How is Triple X diagnosed and treated?
XXX syndrome is diagnosed prenatally, through CVS or amniocentesis, or after the child is born
by a blood test. These tests are all able to look at a person’s chromosomes (karyotype.) There is
no way to remove the extra X chromosome (1). Treatment depends on what needs the child
has. Girls with XXX syndrome may need to be seen by physical, developmental, occupational, or
speech therapists if they have developmental or speech problems. Additionally, a pediatric
psychologist or group therapy may be helpful if they have social troubles. Girls with Trisomy X
are treated as any other child with a developmental or psychological concern would be treated.
What is 46,XX/47,XXX mosaicism?
This describes a chromosome study that shows a mixture of normal cells and cells with an extra
X chromosome. A girl with mosaicism will usually have fewer effects of the extra chromosome,
because not all of her cells have this extra genetic material. She will probably not be much
different than she would be if her chromosome study showed all normal cells.
Where can we find additional information and support?
Information and support:
Triple X syndrome on the Genetics Home Reference, a guide to understanding genetic
conditions. Includes links and tools for more in­depth information.
Triple X Females: An Orientation—an online booklet on a Danish Turner syndrome website that
has a good basic overview of the syndrome. It was written in 1991 and may be somewhat out of
date.
Trisomy X e­mail message group for all those affected by XXX syndrome.
Klinefelter Syndrome and Associates is a non­profit organization that began to provide
information and support for those affected by Klinefelter syndrome, but now has grown to cover
many sex chromosome (X and Y chromosome) disorders, including Triple X.
Related topics on YourChild:
YourChild: Genetic Syndromes
YourChild: Chronic Conditions
YourChild: Developmental Delay
YourChild: Siblings of Children with Special Needs
Related services at the University of Michigan:
Genetics Clinical Care: The Division of Pediatric Genetics provides service in the diagnosis,
treatment and prevention of:
birth defects
structural abnormalities
inherited diseases
chromosomal abnormalities and mental retardation
Pediatric genetics also cares for children with genetic disorders. Services include an evaluation
to identify genetic diseases, chromosomal analysis, amniocentesis for prenatal diagnosis,
molecular and DNA diagnostics, genetic counseling.
Compiled by Kyla Boyse, RN. Reviewed by Autumn Tansky, MS.
Updated January 2013
U­M Health System Related Sites:
U­M Pediatrics