TRIPLE X SYNDROME DEFINITION SYMPTOMS CAUSES DIAGNOSIS AND TREATMENTS

DEFINITION

Triple X syndrome is an abnormality of the chromosomes that
affects about 1 in 1,000 females. Females normally have two X
chromosomes, one from each parent. In triple X syndrome, a
female has three X chromosomes — hence, the name.
Triple X syndrome usually results from an error in the formation
of a mother's egg cell or a father's sperm cell. Sometimes, triple
X syndrome occurs as a result of an error early in the embryo's
development.

SYMPTOMS

Triple X syndrome may not cause any signs or symptoms. If
symptoms do appear, they may include:
Tall stature Vertical skinfolds that may cover the inner corners of
the eyes (epicanthal folds)Delayed development of speech and
language skills Weak muscle tone (hypotonia)Curved pinky
fingers (clinodactyly)Behavior and mental health
problems Premature ovarian failure or ovary
abnormalities Constipation or abdominal pains

CAUSES

Most people have 46 chromosomes occurring in 22 pairs, plus
two sex chromosomes, one maternal and one paternal. These
chromosomes contain genes, which carry instructions that
determine everything from your height to your eye color.
One of these chromosome pairs determines your sex. You
receive one sex chromosome from your mother and another from
your father. Your mother can give you only an X chromosome,
but your father can pass on an X or a Y chromosome. If you
receive an X chromosome from your father, the XX pair makes
you genetically a female. If you receive a Y chromosome from
your father, then your XY pair means you're genetically a male.
Females with triple X syndrome have a third X chromosome.
Although this condition is genetic, it's typically not inherited.
Instead, what usually happens is that either the mother's egg cell
or the father's sperm cell has not formed correctly, resulting in an
extra X chromosome. This random error in egg or sperm cell
division is called nondisjunction.
When the cause is a malformed egg cell or sperm cell, as is
usually the case, all the cells in the offspring's body have the
extra chromosome. Occasionally, the extra chromosome doesn't
appear until early in the development of the embryo. If this is the
case, then the female is said to have a mosaic form of triple X
syndrome.
In the mosaic form, only some of the body's cells have the third X
chromosome. Because only some cells contain the extra X
chromosome, females with the mosaic form of triple X syndrome
may have less severe symptoms.
Triple X syndrome is also called trisomy X, triple X syndrome and
XXX syndrome. It's also referred to as 47,XXX syndrome
because of the existence of a 47th chromosome, which is the
extra X chromosome.

DIAGNOSIS

Because many girls with triple X syndrome are healthy and have
a normal appearance, they may remain undiagnosed all their
lives, or the diagnosis may be discovered while investigating for
other reasons.
Prenatal genetic testing, such as amniocentesis or chorionic
villus sampling, can provide a diagnosis of triple X syndrome
before birth.
After birth, triple X syndrome can be diagnosed by performing a
chromosome analysis on a blood sample taken from your
daughter.
Before genetic testing, it's important to receive genetic counseling
to provide you with all the information about triple X syndrome.

TREATMENTS AND DRUGS

If your daughter has triple X syndrome, treatment is based on her
symptoms, if any are present. For instance, if she has a learning
disability from the triple X, she would require the same
counseling as anyone else with that learning disability. This
counseling usually involves teaching new techniques and
strategies for learning, as well as providing motivation and help
with using these tips in daily life.
If your daughter has been diagnosed with triple X syndrome, her
doctor may recommend periodic screenings throughout
childhood. This would help ensure that any developmental delays
or learning disabilities that may occur receive prompt treatment.
Because girls with triple X syndrome may be more susceptible to
stress, it's important to make sure your daughter has a supportive
environment as well. Psychological counseling may help, both by
teaching you and your family useful methods of demonstrating
love and encouragement, and by discouraging behaviors that you
might not realize are negative.
The chromosome change that causes triple X syndrome cannot
be repaired, so the syndrome itself has no cure. However, given
the treatable nature of most symptoms and how frequently no
symptoms appear at all, it's quite possible to lead a full and
normal life with this syndrome.