Triple X Syndrome

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What is Triple X syndrome

Triple X is a rare genetic syndrome where there is an addition of X chromosome in a cell of a female. In the genetic makeup, the female genes comprise of XX chromosomes. In a rare occasion, an additional X chromosome or even more is added to the XX pair thus Triple X syndrome happens. This condition is also called as the Trisomy X, 47, Triplo-X or XXX aneuploidy. This is called as 47 because conventionally there are 46 chromosomes in the body. With the addition of 1 chromosome, it is then called as 47.

What happens in the chromosomal level?

Triple X is a rare condition as it only happens to 1 in every 1000 females. This happens in women because of the additional X chromosome in the pair of XX chromosomes. The chromosomal pair determines the sex of the fetus. For female it is the XX chromosomes and males have the XY pair. Genetically, the mother gives the X chromosome while the father has the ability to pass either X or Y chromosome. Then this makes up the sex of the fetus.

In the case of Triple X syndrome, there is an additional X chromosome. The addition of another X chromosome is not solely because of the male or female chromosome. What happens is that the egg cell or the sperm cell is incorrectly formed thus an addition of X chromosome is formed. This process is called as the nondisjunction. The addition of extra chromosome usually happens in the first few stages of the embryonic development or when the embryo is still in the process of developing.

Noticeably there are patients whose symptoms are milder than the others. Experts call the additional X chromosome in mosaic forms. This means that only some of the cells have the extra chromosome in the body so the symptoms are lesser. Although this is a genetic problem, the Triple X syndrome is not inherited.

Signs and Symptoms of Triple X syndrome

A study was conducted where they showed that only one out of three XXX is active at a time. This means that the symptoms range is from mild to no bad effects at all. This is attributed to the ionization and formation of Barr Body. Some typical signs and symptoms of this condition include:

  • Having a tall stature which is not normal amongst common girls
  • Small head or microcephaly
  • Epicanthal folds. This is a condition wherein there are vertical skinfolds in the eyes which can cover the eye corners
  • Delayed development of speech or language as well as motor skills- fine motor and gross motor skills
  • Speech problems like being dyslexic
  • Having weal muscle
  • Poor socialization skills

Most problems are associated with the developmental stages of the child as compared to the physical manifestations. This is because the anomaly in the physical aspect is seldom observed in patients with triple X. Because of these problems, a patient is more likely to experience problem at school like poor academic performance. They will also encounter psychological and personal problems which will result to having low-self esteem

Possible complications of Triple X syndrome

  1. Female reproductive system abnormalities. This includes having premature ovarian failure or other ovarian abnormalities. This is the more common complication in patients with XXX. However, there are still women who have normal fertility.
  2. Seizure. Seizure disorder is likely to develop in women with Triple X syndrome.
  3. Kidney problems. Some women with XXX developed abnormal kidneys or one of their kidneys does not function well as compared to the other.

Triple X Syndrome Diagnosis

Diagnosis Triple X syndrome involves examining the chromosomes or doing chromosome analysis. Blood samples are taken to examine the patient’s genes. Another option is to check for this problem when pregnant. Although this is rare, testing for Triple X syndrome is possible even during pregnancy. Amniocentesis is performed as well as the chorionic villi sampling. Amniotic fluid is taken and this is tested to see if there is an abnormality in the chromosomes.

What is good with prenatal check-ups is not only XXX or 47 is diagnosed but also other diseases. However, this test can be costly especially for parents under low budget. Additionally, these tests are also not commonly done during prenatal checkups. A special session is arranged for the doctor to conduct the testing.

Treatment for Triple X Syndrome

The treatment for these problems is based on the symptoms present. When the patient developed seizures because of the triple X syndrome then they are given anti convulsive drugs. This is the same as those who have fertility problems. Pills are given and other treatment options are provided.

When it comes to learning disabilities, speech problems and poor academic performance, counseling is given and they also undergo different kinds of therapy like speech therapy and even therapy for enhancing their motor skills. Counseling is very important so that the child will not have a low self esteem or have personality problems.

Stress is also a main problem for those with XXX syndrome. Because of this, the child needs to live in an environment where they are stress-free love and encouragement is prevalent in the environment. Counseling is not only centered to the patient but also their parents, siblings and the people they live with. This is to make sure that everyone is in the same page when it comes to taking care of the child or woman with Triple X syndrome.

It is also advisable that the child should undergo periodic screening to see if the delays are worsened or if there is a progress. Then the physicians will know what the next steps in the treatment process are.

Parents on the other hand should not worry about taking care of the child with XXX. There are support groups that are devoted to help families with this problem. They can give additional support and advice on the coping mechanism for the child and the family as well. The National Center for Learning Disabilities also opens their door to help children with Triple X syndrome and help them develop their speech, learning abilities and others.

References:

http://ghr.nlm.nih.gov/condition/triple-x-syndrome

http://www.mayoclinic.com/health/triple-x-syndrome/DS01090

http://www.rightdiagnosis.com/t/triple_x_syndrome/intro.htm

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