Posts Tagged ‘Diseases’
Down syndrome is a usual birth defect in the world. There are some Down syndrome characteristics. Usually, we can easily notice the features of the baby via physical appearance. Yet, sometimes we cannot detect the symptoms until the child grow up.
As we all know, the most recurring symptom of Down syndrome patients is mental retardation. However, the serious of the mental retardation is different for every patient. Usually, the Down syndrome patients will show up some malformations. Many studies show that there are more than 50 types of features related to this common genetic disorder. Although not all the patients will have the same symptoms, we can see some recurring symptoms too.
Most Common Characteristics of Down Syndrome
- Thyroid dysfunction
- Upwards slanting eyes
- Flattened Face
- Protruding tongue
- Mental retardation
- Hypogenitalism of hypergonadism
- Small head
- Slow development
- Length of fingers is short
- Irregularly ear shape
The features that I have written above are the most common Down syndrome features that might be seen on the babies. However, we might see other features on the patients too. For example, most of the patients with Trisomy 21 are quite emotional. They can easily angry. Most of these features may not show during the baby time. It will start to become obvious when the baby grows.
Generally, the patient looks almost alike to each other. We can simply notice the Down syndrome patient via their physical appearance. The confident clinical diagnosis is quite difficult during the early time after birth. For the female patients, the menarche usually occurs at normal time. Most of the female patients are fertile. They can have baby. But, the male patients usually associated with hypogenitalism. Therefore, they are infertile generally.
This genetic abnormality is caused by the abnormality of genes. They are born with an extra chromosome 21. Normally, we have only a pair of chromosome 21. The extra genetic information often causes those medical problems. The Trisomy 21 patient will tend to develop cancer cells than others. The abnormality is caused by the errors occurred during the cell division. The wrong mechanisms occur during the sperm or egg cell development. The errors occur are closely related to the age of the parents. Women who older than 35 years old will tend to produce the abnormal egg cells.
In conclusion, the patients should get the suitable therapies to reduce the severity of the symptoms. It is recommended to seek for a doctor’s advice to get the most suitable treatments to the patients.
Are you looking for more information about Down Syndrome? Check out my Trisomy 21 in Cancer Research blog.
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Join Daniel T. O’Connor, MD, Professor of Medicine and Pharmacology at UCSD, for a fascinating look at the role of genetics and common diseases of later adult life. Specifically, twin pairs are used as a window into the role of heredity in hypertension. Series: “SIRA (Sam and Rose Stein Institute for Research on Aging)” [4/2007] [Health and Medicine] [Show ID: 12207]
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Cytokinetics to Present Phase I Data Relating to CK-2017357 at the XII International Congress on Neuromuscular Diseases
SOUTH SAN FRANCISCO, CA–(Marketwire – July 14, 2010) – Cytokinetics, Incorporated ( NASDAQ : CYTK ) announced today that a poster summarizing Phase I data relating to CK-2017357 is scheduled to be presented in the Late Breaking News Poster Presentation Session at the XII International Congress on Neuromuscular Diseases to be held July 17-22, 2010 at the Congress Venue Ateneo Federico II, Monte …
Read more on Marketwire
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