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Trisomy X


Normally all humans have 46 pairs of homologous chromosomes. Two of the 46 pairs code for the sex of the individual. Normally females are made of XX chromosomes, and males are made of XY chromosomes. In the case of someone who has X trisomy, their chromosomes are XXX, and therefore they do not have 46 pairs of chromosomes they have 47. Trisomy X is written 47, XXX for karyotypes. The three pairs of X chromosomes are a result of non-disjunction of sex cells during anaphase I or II of meiosis. This is a diagram illustrating how it is possible for a zygote to be fertilized with three X chromosomes. People with Trisomy X (XXX) can only be female because if the had a Y chromosome they would then be male and their condition would be called Keleinfelter’s syndrome.


Trisomy X is similar to Klienfelter’s (XXY) syndrome and Turners syndrome (X), which is why it is appropriate to credit the minds of Kleinfelter and Turner for the discovery of Trisomy X. Triple X syndrome can also be called Kleinfelters syndrome with the substitution of an X, and it also can be called Turners syndrome with an addition of XX. The physians Kleinfelter and Turner made their discoveries and 14 and 17, respectively.[] in 14 Harry Kleinfelter alnog with Fuller Albright and thier co- workers at the Massachusettes general Hospital published their findings regarding nine men. these man had large breasts, little facial hair and inability to produce sperm. this syndrome was now known as Kleinfelters syndrome and was characterized by the XXY chromosomes. [8] Triple X Syndrome is a lot like Kleinfelters syndrome chromosomally speaking because instad of the extra Y chromosome has another X. All this means is that the individual has to be female. Surprisingly enough the symptoms are nothing alike. Its name became Triple - X because Patricia Jacobs was studying the XXX syndrome in two women in Scotland. She found that instead of the regular 46 chromosomes in humans, there was an extra chromosome number 47, which resulted in having three X chromosomes instead of the regular two. She described this as 47, XXX. []


The triple X syndrome is aquired through non- disjunction. Non- disjunction is when the homologous chromosomes fail to separates during either Anaphase I or II of meiosis. This results in a sperm or egg containing two X chromosomes. When this for instance double X chromosomed egg fuses with the male sperm (containing only one X), during fertilization, a zygote with three X chromosomes is produced. This is better described in this diagram


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Many genes are affected by whole chromosome mutations, the resulting phenotypes are usually called syndromes. Syndromes are characterized by the disruption of multiple organ systems. Since the genes on each chromosome code for proteins that perform completely unrelated functions in the body it is possible to affect the whole body by an addition or deletion of one chromosome. [4] In the case of Trisomy X the whole body is not affected because only one X chromosome is active in the female adult’s somatic cells. The inactivation of the other two chromosomes occurs about 16 days after fertilization. This is a completely random process. The two chromosomes that are inactivated are called the Barr body. Therefore Trosomy X females express genes from only one X chromosome. However due to the fact that X- inactivation is a random process, some females might end up with a skewed X- inactivation. For example, such a female might inactivate 50% of one X, 60% of another X, and 0% of another X. [4] This assembly may be what causes some of the few symptoms exhibited by Trpiple X individuals. (complete) No Trisomy X syndrome is not inherited because it cannot be passed on from one generation to the next. It is also not inherited because both parents who don’t have a trait for XXX syndrome could produce a child that has Trisomy X. The fact that the sex cells chromosomes split as a “fluke” per say. Triple X occurs sporatically and is not usually passed on from a triple X mother to her daughter.[6] Polygenic referrs to a mutation caused by more then one gene. This syndrome is polygenic because Triple X patients have a whole other chromosome containing between ,000 and 5,000 genes. These individuals are also called polyploidy meaning they have more then the needed number of chromosomes. Triple X is not caused by a dominant/recessive type gene because this syndrome is not on a part of a chromosome that codes for a gene, it is the presence of a completely unneeded chromosome. The allele for one gene does not dominate over another to produce symptoms. Symptoms are produced when the deactivation of the X chromosomes occurs enevenly and leaves One factor that may affect whether the child has an extra chromosome is the age of the mother. As a woman grows older it becomes more probable that non-disjunction could occur in her egg cells.


Symptoms of Trisomy X are fairly un noticeable. Sometimes the only thing that actually appears different is the actual karyotype showing the chromosomes. In some cases mental retardation is possible in numerous cases the intelligence level of girls with Trisomy X tend to be slightly skewed and lower then average. In some cases certain physical abnormalities have been reported such as, a relatively small head. Vertical skin folds that cover the eyes inner corners have also been reported. these are called epicathnal folds. [] At birth it is slightly more probable for the infant to be born underweight. The average birth weight of infants with trisomy X is slightly lower then that of a normal birth. [] As children they may have delayed motoric development, delayed development of linguistics as well as delayed maturity. With Triple X it is relatively common to have learning difficulties, particularly language based, such as dislexia.


Girls with XXX Syndrome also have a tendency to be quieter and more introverted. With help and guidance Trisomy X children will be able to function just as any other child would. Girls with Trisomy X tend to be above average in height. They have a faster growth acceleration but only up until about the age of eight. Although these girls tend to be taller, their height to weight ratio often shows a lower then average weight. The development of their menstral cycle and secondary sex characteristics such as breasts occur normally. Their menstral cycle comes at approximately the age of 1 , which is normal. Although knowledge about fertility is limited, women generally are fertile and able to have children. [] Triple X women are at increased risk of developing back problems, since their musculature is said to be weaker. Musculature in the back can be strengthened by simple exercise and participation in sports.


Since there doesnt really seem to be any relyable symptoms of this syndrome (that tend to consistantly appear), it is hard to relate these few symptoms to a change in DNA. Triple X syndrome is not characterized by a change in the genes on the DNA (eg. deletion), it is the presence of a completely unneeded chromosome with a full set of genes. This chromosome does not really affect the the way protiens are produced because in most cases it has been deactivated during the first few weeks after fetilixation. in the few cases where the extra chromosome did not get de activated, the presence of the extra chromosome only minorly affects the individual. In many cases the affect of the extra chromosome is only ever noticed when viewing the persons karyotype. An example of what happens when an extra chromosome causes a noticable syndrome is in the case of Down syndrome. Down syndrome is caused by he presence of three chromosome 1s. An extra copy of chromosome 1 leads to over-expression of Down Syndrome Critical Reigion 1 (DSCR1), found in the brain. An inhibitor prevents Calcineurin from removing the phosphate groups from the critical reigon of the brain. Phosphorolated NAFTC cant enter the nucleus to regulate specific genes for normal brain development.[7] Since the brain does not develop normally mental retardation occurs. Also the brain, immunosystem, heart and skeleton do not develop normally.When a cell does not accurately copy its DNA, or de-activates the wrong DNA on all three of the chromosomes, a different DNA sequence is likely to be produced. This results in a different protien bieng made, since the sequence of DNA codes for the production of potiens. If that protien is responsible for a vital part of human opperation, and it cannot function properly, disease may occur.


When a cell does not accurately copy its DNA, or de-activates the wrong DNA on all three of the chromosomes, a different DNA sequence is likely to be produced. This results in a different protien bieng made, since the sequence of DNA codes for the production of potiens. If that protien is responsible for a vital part of human opperation, and it cannot function properly, disease may occur.


Triple X is found in approximately 1 in 1,000 births.[] Triple X births are always female, since the presence of a Y chromosome would mean the birth had Kleinfelter’s. In Canada with a population of approximately 0 million, about there is about a one in thirty thousand chance of being born with Trisomy X. That is a 0.001% chance of giving birth to a child with Trisomy X. There is a factor that may increase the probability that you child will be born with Trisomy X. The age of the mother affects whether their child will be born with Trisomy X because with age comes the increased chance that the homologous chromosomes or sister chromosomes will not separate during meiosis I and II in the making of her egg cell.


The treatment required for the disease vary with each individual case. In one of the worse case scenarios where the girl is born with mental retardation, she should receive regular psychological help as well as be placed in a special school situation that can cater to her learning needs. In a case where the girl is just a slower learner she could compensate with use of a tutor, or visits to an after school learning center. These places can teach her life long tools that will help her overcome her learning difficulties throughout her life. Theres no real medicinal treatment for the disease since the symptoms are few, and inconsistant between all the sufferers of Trisomy X.


References


[4] Ballard, Ruth. 00. Chromosome Mutations.


http//www.csus.edu/indiv/b/ballardr/Lecture%08%0-%0Chromosome%0Mutations


[] Nielsen, Johannes. 1, Triple- X Females,


http//www.aaa.dk/TURNER/ENGELSK/TRIPLEX.HTM


[1] Microsoft Encarta Encyclopedia


[] 001. Triplo- X Syndrome


http//www.rarediseases.org/search/rdbdetail_abstract.html?disname=Triplo%0X%0Syndrome


[5] An Introduction To genetics


http//www.gig.org.uk/education1.htm


[6] Ratcliffe, S Contact a family. 00, Triple X Syndrome,


http//www.cafamily.org.uk/Direct/t40.html


[7]


http//images.google.com/imgres?imgurl=www.erin.utoronto.ca


[8]


http//www.medicinenet.com/prevacid.htm


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