Etiology and characteristics of Klinefelter syndrome
During sweet expectation, the mother-to-be often wonders what happens inside the belly. In recent years, more and more ways to find out and keep an eye on the health of the fetus have developed. In addition to regular gynecological screenings, specific tests such as a prenatal test can be performed.
These tests allow detection of chromosomal abnormalities, sometimes as early as the first weeks of gestation.
It is possible to divide prenatal tests into two macro categories:
- Noninvasive Prenatal Screening, Such As Fetal Dna Testing;
- Prenatal diagnostic (invasive) tests such as amniocentesis and villocentesis.
Etiology of Klinefelter's syndrome
Depending on the gestational period, different tests can be performed to detect numerical or structural chromosomal abnormalities. Numerical abnormalities involve an altered number of chromosomes. Structural abnormalities, on the other hand, are related to an alteration in chromosome structure.
In both cases, an important risk factor is the age of the mother. In fact, above the age of 35, the chances of chromosomal abnormalities increase 1 .
the trisomies are the most frequent chromosomal abnormalities. Their characteristic feature is the presence of an extra chromosome. The most common are Down syndrome, Edwards syndrome, and Patau syndrome, but there are others.
For example, the Turner syndrome and the Klinefelter syndrome involving sex chromosomes.
There Klineflelter Syndrome was by discovered Dr. h. f. Klinefelter in 1942, hence the name
It is a non-hereditary genetic disorder and its causes are unknown. The manifestation is sporadic and in most cases there are no cases in the parents' family history. The only thing known for certain is that the error occurs during meiosis that is, the process during which the cells that form gametes divide 2 .
In 90% of cases, Klinefelter syndrome is caused by the presence of an extra X chromosome in all cells. In the remaining 10%, the abnormality is present in only part of the cells, and this phenomenon is called mosaicism 3 . Affects only male individuals and affects 1 in every 500-1 children.000 3 . Sufferers have 47 chromosomes and an XXY chromosome make-up.
How the disease manifests itself
The disease manifests with testicular dysgenesis, female features, underdeveloped sexual characters. The sufferer may present with these Characteristics 3 :
- Height Greater That That of the Parents;
- Abnormal proportions;
- Excessive Breast Development (Gynecomastia);
- Behavoral Disorders;
- Speech Disorders;
- Intellectual Deficits.
Klinefelter syndrome and other chromosomal abnormalities can be detected as early as during gestation. Several Prenatal Tests Exist for this Purpose. To Choose The Best Screening Test for Her, The Mother-to-Cons Consult Her Ober/Gyn of Choice.
Will Be Able to Advise You Regarding The Most Suitable Tests Based on Timing and Degree of Riliatility.
Tea Fetal DNA Testing is the Earliest
It can be performed from the 10th week of gestation and is noninvasive. All that is needed is a sample of maternal blood, from which doctors will extract fetal dna for examination. Has 99.9% Reliability and Can Detect Major Trisomies, MicrodeLes, and Chromosomal Abnormalities.
Bitest and the ultrasound examination called nuchal translucency are available between 11 and 13 weeks. Have a reliability rate of approximately 85% 4 . Tritest, on the other hand, is available between the 15th and 17th weeks of gestation and has a reliability rate of about 60 percent.
The mother-to-be can seek advice on which prenatal screening test to take from her OB/GYN of choice.