Running Head: TRIPLE X SYNDROME
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Triple X Syndrome: An Analysis of the Condition
Kayla M. Lugo
AP Biology
TRIPLE X SYNDROME
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Abstract
The developmental and clinical aspects of the triple X syndrome are reviewed. The
incidence is 1 of 1000 females. At birth, girls with Triple X have a lower average birth weight
and a smaller head circumference. Triple X diagnosis was not suspected at birth. Toddlers with
triple X syndrome show delayed language development. The youngest girls show accelerated
growth until puberty. Women had minimal difficulties reproducing (although difficulties were
present in some cases). Many girls show motor-coordination problems; auditory processing
disorders are not rare. The females tend to struggle with low self-esteem and usually need
psychological, behavioral and/or educational support. In adults, premature ovarian failure seems
to be more ubiquitous than in control. Triple X adults suffer from intrapersonal conflict and are
prone to varying personality traits (this usually begins within the teenage years of the woman and
might show slight signs in her early childhood).
Keywords: Triple X Syndrome , ‘47,XXX’, XXX syndrome, Trisomy X, Psychiatric disorders,
The Human Genome Project, physical phenotype, behavioral phenotype, auditory processing
disorders, learning disabilities, interpersonal relationships, intrapersonal conflict
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The Triple X Syndrome, also called Trisomy X, XXX syndrome, or ‘47,XXX’, is defined
by the existence of an extra ‘X’ chromosome within each of a female’s cells. The chance of
having a child with Trisomy X is only one percent, though there is no way of knowing until the
child is well within their life. Though one might believe so, this disease is not very rare; most
cases of Triple X Syndrome go undiagnosed. One in one-thousand girls have this disorder, and
five to ten children are born in the United States with it each year. The first case of Triple X
Syndrome was found by Patricia A. Jacobs. Jacobs published the first case of a woman with
forty-seven ‘X’ chromosomes while she was in Scotland. She found that the disorder was not
hereditary, but a “random” occurence in the human genes. The Human Genome Project, the
ongoing mapping of the human make-up, may help us to find more information about the
coincidence.
Most people have 46 chromosomes, occurring in 23 pairs. 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. Females with Triple X syndrome have
a third X chromosome. The first step of meiosis requires all of the pairs of chromosomes to line
up across from each other in two parallel lines. Then the two lines separate creating two new
cells, each with one copy of the chromosomal pair. In XXX syndrome, the sex chromosomes do
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not separate so that one of the new cells ends up with the original pair, while the other cell ends
up without that genetic information.
Only minor abnormalities in physical appearance result from this disorder, though mental
development can be prolonged because it. Other than abnormal height, a smaller head
circumference, and a low birth weight, females with this particular disease typically do not have
many unusual deformities. The physical phenotype shows earlier growth and longer legs. In
fact, although this disease affects a woman’s cells, she is still able to conceive as her sexual
development is not affected. While no physical deformities are usually present, woman with
Trisomy X are more likely to have learning disabilities; delayed developmental motor skills are
prominent, and in some cases the girls are apt to failure or trouble of the kidney, seizures, or
even psychiatric disorders. These characteristics do vary enormously amongst affected females.
There are various cases in which Triple X Syndrome is connected to mental or emotional
problems throughout life; Psychiatric disorders seem to be more common in triple X syndrome.
Its major effects on the body begin taking place during infancy and toddlerhood, along with
major parts of childhood such as the teenage years. Psychiatric disorders may be ‘promoted’ by
any emotional scarring obtained by the child in her younger years. There are a few tell-tale signs
of a young girl having Triple X Syndrome such as: difficulties learning how to speak, read,
write, and even walk. The behavioral phenotype often shows auditory processing disorders,
disorders in language development and problems in forming stable interpersonal relationships.
Adults with this disorder may suffer from intrapersonal conflicts and are prone to varying
personality traits. Female with this disorder may have other psychiatric disorders such as
Bipolarism, OCD (Obsessive Compulsive Disorder), ADHD (Attention Deficit Hyperactivity
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Disorder), or ADD (Attention Deficit Disorder). However, due to circumstances unknown, it is
extremely difficult to be sure of this disease being present in a young girl. Therefore, woman
with the Trisomy X disorder aren’t diagnosed until later in life.
In many studies, it is found that the offspring of middle age parents are more likely to
obtain this illness. The association between Trisomy X in the offspring and maternal age is not as
strong as in Trisomy 21. In the newborn-screening studies, the average maternal age was 33 and
the paternal age was 29. In the first papers on the newborn-screening studies, 43 girls with an
extra X chromosome were described. The prevalence seemed to be 0.1%. The mean birth weight
was 2979 g, 400–500 g less than that in the controls. Ten years after the first description of triple
X syndrome, one third of 155 cases had a congenital physical defect. In his thesis on 39 women
with an extra X chromosome, Olanders reported nonspecific “facial dysmorphism (mandibular
prognathism as well as retrognathism)” and various minor hand and feet anomalies.
Triple X syndrome is a syndrome with a high level of variety in the physical and
behavioral phenotype. Triple X syndrome is not rare, but it is often undiagnosed.
Notwithstanding the relatively high prevalence of triple X syndrome, there are many issues yet to
be studied in physical and behavioral development up to old age. In psychiatric research, it
would be interesting to study the relation between low self-esteem and paranoid speculation in
reference to this disorder. In addition, the relations between auditory-processing disorders,
language development and the development of social cognition may yield insight into the
development of difficulties in forming satisfying relationships and how to treat disorders in this
area. Triple X syndrome may serve as a model for studying the physical and behavioral aspects
of developmental delay. The process of the formation of the third X chromosome may require
further study.
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