Down Syndrome- Tracing it to the Extra DNA
The Down syndrome is also known as trisomy 21 or Down's syndrome. A patient affected by Down syndrome suffers from acute abnormalities in body functioning which arises from the person's abnormal body structure. The root cause of Down syndrome is the 21st chromosome (DNA). This dysfunction can occur due to the presence of just a portion of the chromosome or the entire genetic material.
The Down syndrome symptoms were first documented in detail by the English physician, John Langdon Down, way back in 1866. Hence, it is in his name that the ailment is named. The chromosomal abnormalities insofar as its shape or number is concerned were clearly identified in the 1950s following the discovery of the special karyotype methods. It was in 1959 that the cause of Down syndrome was traced to the presence of the extra DNA. But it was only in the 21st century that the chromosome was labeled and the condition termed as trisomy 21. Thus we see that the medical detectives and researchers were unable to pin down the exact cause of Down syndrome till the 20th century.
The Down syndrome was found to affect people in all the races. What is more, the Down syndrome was found to attack the women in their advanced years. Another significant aspect of Down syndrome that attracted the attention of the researchers was the rarity of its recurrence.
Till the middle part of the last century, the common medical perception on Down syndrome was that it takes place due to several aspects that were basically inherited. Even then the intensive searches for these factors were eluding results. The fact that the Down syndrome was particularly noticed among the mothers after they reach an advanced stage led a school of medical thought to trace the cause of the dysfunction to some shock(s) undergone by the expecting mother.
The commonly reported symptoms of Down syndrome are a facial layout that remains as it was during that person's birth, and total impairment in the development of that person's physical appearance.
Besides, the Down syndrome affected child fails to have the learning capability, and have retardation besides below par cognitive aptitude. His/her social and emotional abilities are largely dependent on the mental retardation of the child affected by Down syndrome. The child's mild IQ ranges from 50 to 70 while the moderate IQ ranges from 35 to 50. Those affected by Mosaic Down syndrome have IQ range that may go up by 10-30 points higher.
The Down syndrome kids can also develop serious health problems like thyroid dysfunctions, sleep apnea (obstructive), recurring ear infections, gastroesophageal (reflux) disease, and heart defects that are congenital in nature.
Mentionably, there are instances of people possessing the usual sets of DNA also suffering from the Down syndrome symptoms. The signs are enlarged tongue, speech impairment, shorter limbs, almond (shaped) eyes, and a single crease across one or both palms (simian crease). Depending on the child's disability in the cognitive sphere.
It is of necessity that kids affected with Down syndrome are provided immediate medical attention. Despite the fact that many Down syndrome dysfunctions stays on for life, yet the patient can be taught to adjust with the prevailing physical conditions. For this, the parents or guardians of any child must always be attentive about any such abnormalities in their children. If any such signs are noticed, the physician must be immediately consulted, and the required medical screenings carried out. The initial tests pertain to the thyroid among others. The growing child can be provided vocational training The foremost thing to remember that Down syndrome patients require a homely environment to recuperate whatever he/she can.
Help to Become Pregnant – New Help For Women Over 35
Looking for the help to become pregnant? Take into account that women over 35 may take longer to be able to conceive. There are so many positive things about having children when we are older. On the other hand there are some risks you have to take into account. I know exactly how you feel, because that's just how it was for me. When I tried to get pregnant I was nearly 33 years old. I married my second husband and we both yearned to have a baby...
1. Women over 35 may take longer to be able to conceive.
This is related to those eggs we have had since birth. We don't make new eggs as men make new sperm. Our eggs are with us almost from conception. They don't always age well. They can lose quality and there can be fewer of them. This is one reason to seek help to become pregnant from your health care provider if you have been unable to achieve pregnancy after trying for 6 months.
2. There is an increase in spontaneous miscarriage.
There is an increase in spontaneous miscarriage with an approximate risk of 25 percent in women age 35-39 and 51 percent in women 40-44. If you look at this another way, women 35-39 have a 75 percent chance of not having a miscarriage.
3. Down Syndrome or other chromosomal abnormalities
The concern many women over 35 hear about most often is Down Syndrome or other chromosomal abnormalities. At 35 a woman's risk of any clinically significant chromosome abnormalities is about 1 in 200. Her risk of a baby with Down Syndrome is about 1 in 365. In other words, the odds of having an absolutely normal baby would be about 99.34 percent.
Have you tried so many things to help get pregnant? Are you frustrated... disappointed... or truth be told, even a bit angry that you're not pregnant yet?
Birth Defect – Triple X Syndrome (Superwoman)
Since secondary school, I started burning with curiosity on this description, SUPERWOMAN. Why a female with 47, triple X karyotype can be described as a 'superwoman' in cytogenetic. Is she possessed of any super power or advantage just like X-Men?
According to some cytogenetic studies, females with a 47, triple X karyotype rarely show any physical abnormalities. Therefore, this syndrome is the least frequently detected chromosome aberration in cytogenetic. They are very soft and gentle than any other normal females in attitude and behavior. This is why they are acknowledged as 'superwoman'. Most of them lead to normal lives.
Can the superwomen get their pregnancy? Yes! Gonadal function is normal in majority patients, however, premature ovarian failure might occur too. They usually produce normal children, though there may be a slightly increased risk of nondisjunction occurred among them, which lead to birth of children with other abnormalities such as Down syndrome and 'Patau' syndrome in Cytogenetic.
Frequently, a decrease in intelligence occurs, though it is not sufficiently severe to be classified as retardation. However, there are significant delay in motor and mental development including language and cognitive abilities. They also tend to have behavior disturbances and difficulties in making social contacts.
How could it be? Similar to most of the 'trisomy' syndrome (the possession of a third chromosome in any type of chromosome which results in abnormalities), the superwoman is caused by the meiotic nondisjunction in Cytogenetic.
Why meiotic nondisjunction will occur and how to prevent it?
We should aware about this kind of genetic disorder as we can prevent it from occur. One of the method is to do the chromosomal screening. There are many others methods. Be good to you and your new generation.
Understanding Infertility and the Statistics
If you think you have a fertility problem, you may feel all alone. But your not. In fact, infertility affects more than 6 million American women and their partners. That's about 10 percent of Americans who are of reproductive age. Some estimates put the figure as high as 20 percent! Infertility affects men and women with almost equal frequency.
It's important to remember that many different conditions can affect your ability to conceive. Bur it's equally important to remember that recent advances in drug therapy, microsurgery, and assisted reproductive technologies are making it possible for half to three-quarters of the couples seeking treatment to conceive.
The longer a woman waits to conceive, the longer it will take her. The optimal time for a woman to conceive is between the ages of twenty-two and twenty-six. However, many women in their early twenties do not want to conceive-they may not be married, or they may be busy pursuing a education or careers, or they just may not feel ready to start their families.
Fertility starts declining after the age of thirty and more rapidly after thirty-five. A woman under thirty has about a 20 percent chance of conceiving each month. By the time she reaches forty, her chances of conceiving drop to only 5 percent each month.
Why is this? After age thirty, hormone levels start declining and eggs start deteriorating subtly. A woman is born with all her eggs-about 300,000. But as she approaches menopause, only a few thousand eggs-eggs that have been around for a lifetime-are left. And older eggs are not only not as fertilizable as young eggs, they're much more likely to carry chromosomal abnormalities such as Down Syndrome. But if you're older, don't despair-the majority of older women who carry a pregnancy to term give birth to healthy babies.
Fertility among men also decreases with age, although not as dramatically as for women. Older men tend to have lower levels of testosterone, and this in turn affects their sexual drive, as well as their ability to achieve and maintain an erection. Older men are also more likely to have medical conditions, such as hardening of the arteries, or diabetes, that can impair sexual ability.
In addition, older couples tend to have sex less often than younger couples. And the older you are, the greater the chances are that you have gotten illnesses that can interfere with your fertility, such as sexually transmitted diseases (STDs), diabetes and thyroid disease.
While chance of conceiving decreases the older one gets, the chance of miscarriage, or spontaneous abortion, as it is called in the medical field, increases. Miscarriage is a relatively common occurrence. Ten to 12 percent of pregnancies in women under thirty-five years of age end in miscarriage; 18 percent of those between thirty-five and thirty-nine, and 34 percent of those between forty and forty-four, do as well. More than half the pregnant women forty-five or over miscarry.
Becoming a mother at 40′s
Italy is the western country that has the largest number of mothers over forty. 4.6% of children born in 2005, in fact, born to mothers over forty. The phenomenon is widespread in all western countries but in Italy takes on larger proportions, for reasons both economic and social. Italian women are harder to reach a working position, and therefore economic, stable and have much more difficulty in other European women to reconcile work and family. Certainly there are many women who arrive late for motherhood because they had difficulty conceiving but to be increasing the number of those who chose to delay motherhood to a stage of life they deemed most appropriate.
Although the forties today are mostly in good shape, unlike the majority of women the same age twenty-five to thirty years ago, over forty pregnancies involve greater risks than those conducted in any case at a young age, most often because are characterized by obstetric complications such as' hypertension arterial gestosis, the diabetes. We must not forget that maternal age is a risk factor for the occurrence of chromosomal abnormalities such as Down syndrome. Indeed as these women show an excellent overall health and life expectancy has lengthened cannot be said that the age at onset of menopause has changed. Women often postpone motherhood because they often prefer to devote to work and career, but unfortunately are still very difficult to get pregnant after forty, and the techniques of assisted reproduction do not guarantee the same results that can provide younger women.