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Triple X Syndrome

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Sonia Santos

on 23 February 2014

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Transcript of Triple X Syndrome

Triple X Syndrome
Symptoms and Factors of 47,XXX
There is no specific test that an determine if a female has Triple X syndrome, but many other issues can link Triple X syndrome to the woman:
Because many of the girls and women who have this syndrome appear normal, many times they go undiagnosed.
Prenatal genetic testing such as CVS (tissue is tested from vascular fingers) or amniocentesis (testing the amniotic fluid the embryo floats in), can often find the presence of a third X sex chromosome
As an infant, chromosome analysis in the form of a blood sample can diagnose 47,XXX.
Behavioral, learning and mental disabilities can often be linked to the diagnosis of Triple X syndrome
What is Triple X Syndrome?
Triple X syndrome is also known as trisomy X or 47,XXX, superfemale and Triplo X syndrome
Triple X syndrome is a chromosomal abnormality found in the sex chromosomes of a woman.
Rather than the normal number of sex chromosomes in a female, (XX), there are three X's, or a trisomy of X's in a female with Triple X syndrome.
This occurs once out of every 1,000 births
According to the National Institutes of Health in the US, 5 to 10 girls with triple X syndrome are born in the USA each day.
It only occurs in females because the sex chromosomes for women are XX so with an extra X, the offspring is still female because there is no male Y chromosome. If there was a male Y chromosome in addition to multiple X's then the offspring would just have Klinefelters syndrome.
Many times women go by undiagnosed, and are fine, which makes researchers believe only 10% of cases of Triple X syndrome are recorded.
Current and/or Required Research
Need to establish evidence based treatments for females with 47,XXX
Counseling, psychiatrist sessions have been advised rather or in addition to being in special education programs to help with behavioral, emotional and learning disabilities.
Longer studies with women how have this syndrome is needed to find more possible treatments and symptoms.
Studies between low-self esteem and paranoia is something researchers are curious about
Further study is needed to see what happens to have the third X become inactive.
Prevention and Treatment options
Although there is no way to remove the extra X, there are many different treatment options for each specific carrier:
Developmental assessment by four months to keep an eye on muscle strength and tone
Periodic screenings of kidneys, heart and muscles to prevent any issues that may arise
Psychotic symptoms react well to standard neuroleptic treatment and sometimes electro-convulsive therapy
Counseling for any learning, speech or emotional problems
The best thing is just support from family and friends to help control outbreaks and emotional symptoms

Prevention of this syndrome is virtually impossible because it occurs in fertilization and there is no way yet to remove the extra X. However because this is more common to occur in older women, having a child at a younger age (20s to late 30s) can help prevent Triple X syndrome
How does Triple X Syndrome occur?
This syndrome is not inherited from her parents.

Experts claim that this syndrome occurs either:

Mother's egg or father's sperm was not formed properly (non-disjunction) during meiosis 1 or 2 in which the sex chromosomes and/or the "X" sister chromatids don't split when going through meiosis.
Something went wrong during embryo development.
Non-disjunction is more common the older the mother is
Works Cited
Lower mean weight than usual infant weight.
Smaller head circumference
Curved pinky finger
Smaller brain volumes
Delayed language development
accelerated growth until puberty (longer legs)
Vertical skin folds that may cover the inner corners of the eyes
Start walking later than normal
Motor-coordination problems
Auditory-processing problems
Scoliosis is common
Lower IQ points (about 20) than control
Lowest verbal IQ
Low self-esteem and shy
Weak muscle tone
Abdominal pains
Tend to be under weight for height
Short term memory and recall problems
More masculine and impulsive behavior
Learning disabilities
ADHD is possible
Premature ovarian failure is more common
Decreased brain size
Psychotic illness
Kidney and heart problems are not uncommon

By: Sonia Santos
As seen, a female with Triple X syndrome would have the sex chromosomes of: XXX.
Academic Journal Articles:






Image URLs shown next to the image

The first Triple X syndrome case was published after the descriptions of Down syndrome, Klinefelter and Turner's syndrome were published.
In Scotland 1959, Patricia Jacobs described the first case of Triple X syndrome in an infertile patient.
Unlike Down's, Klinefelter and Turner's syndrome, there were no clinical descriptions of this syndrome before karyotyping became available.
Background Info

Image: http://triplexsyndrome.wikispaces.com/file/view/nondisjunction.jpg/185860721/418x296/nondisjunction.jpg
(many of this symptoms overlap they do not just go away once the girl is an adult)
From: http://www.nature.com/ejhg/journal/v18/n3/full/ejhg2009109a.html
From: http://www.nature.com/ejhg/journal/v18/n3/full/ejhg2009109a.html
Trisomy X syndrome occurs when there is a non-disjunction of the sex chromosomes in meiosis 1 or 2 making one in 1,000 FEMALE offspring have three X sex chromosomes, rather than the usual two. Many time this syndrome goes unnoticed because the carrier looks normal but may actually have emotional, behavioral and learning disabilities due to the characterized small brain volume. So far there is no way to remove the third chromosome or have a clinical treatment.
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