Kora Saint-Lot
Mr. Youell
Science
7th Oct 14
An unfortunate mother from England opened up to a support group and told them her daughters story. After 3 miscarriages she finally had one successful pregnancy but after an amniocentesis test she found out her child would have Trisomy X syndrome. This syndrome is characterized by an extra X chromosome (as seen on Fig 1).
This syndrome is usually caused by a mistake in the formation of an egg cell or a sperm cell but sometimes is caused by and error in the embryo's development. Many of these women will have no or very mild symptoms and are expected to live a normal life. (Fig 2) Bur in some cases the symptoms can be more obvious and they can be:
Severe cases of Trisomy X can lead to ovary abnormalities, seizures, kidney abnormalities and could also include: academic problems, stress, poor socialization skills which leads to social isolation.
You may not notice your daughter has the syndrome because if they have no or mild symptoms they could live undiagnosed their whole life. To properly determine whether your daughter has the syndrome genetic testing is done such as: amniocentesis (before birth) or chromosome analysis on a blood sample (after birth).
Trisomy X is incurable but depending on the symptoms there are some solutions to this issue. For example if she has a learning disability counseling, new techniques and learning strategies may be the solution. If your daughter is more susceptible to stress psychological counseling, supporting them in a loving environment may be the solution.
Leah has developed normally and is quite tall for her age. As an only child her parents have been able to focus on helping her cope with some of her minor problems such as:
Mr. Youell
Science
7th Oct 14
Trisomy X Syndrome
An unfortunate mother from England opened up to a support group and told them her daughters story. After 3 miscarriages she finally had one successful pregnancy but after an amniocentesis test she found out her child would have Trisomy X syndrome. This syndrome is characterized by an extra X chromosome (as seen on Fig 1).
 |
| Fig 1: Karyotype of a child with Trisomy X |
- Tall stature
- Vertical skin folds that may cover the inner corners of the eyes.
- Delayed development of speech and language skills
- Weak muscle tone
- Mental health and behavior issues
- Constipation or abdominal pain
 |
| Fig 2: Most children end up completely normal and you can't tell they have this syndrome. |
You may not notice your daughter has the syndrome because if they have no or mild symptoms they could live undiagnosed their whole life. To properly determine whether your daughter has the syndrome genetic testing is done such as: amniocentesis (before birth) or chromosome analysis on a blood sample (after birth).
Trisomy X is incurable but depending on the symptoms there are some solutions to this issue. For example if she has a learning disability counseling, new techniques and learning strategies may be the solution. If your daughter is more susceptible to stress psychological counseling, supporting them in a loving environment may be the solution.
Leah has developed normally and is quite tall for her age. As an only child her parents have been able to focus on helping her cope with some of her minor problems such as:
- sensitivity to loud noises
- shyness
- speech difficulties
- difficulties concentrating
- emotional issues
These are issues that her parents can help her get through easily but other than that Leah is a completely normal child. She is a good swimmer and dancer, always kind to her peers and willing to share. She shows great emotional intelligence and her parents feel so fortunate to have her in their lives.
Kora, you did a really nice job on explaining the Trisomy X syndrome. You were able to clearly explain what happens in the reproduction causing the baby to be born with this syndrome. The two things that I particularly think you did well was explaining how someone finds out if their child has this specific disorder and what their characteristics would be. Overall you did a very good job and your blog was well written making it very clear to read and understand.
ReplyDeleteKora, you explained perfectly the Trisomy X syndrome. Your article is easy to understand and that is one of the reasons why I like it so much. Great job!
ReplyDelete