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Chromosome aberrations: filter, filter, filter

Chromosome aberrations: filter, filter, filter

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Before having a child, most people try to be physically and mentally prepared for the new task they are expecting. A healthier lifestyle, more informed decisions, and responsible planning are all part of this process.

Down syndrome baby

As well as being pregnant (or just before the baby is pregnant), parents are doing their best to have their baby healthy. However, often parents - no matter how prudent they are - are not aware of the abnormalities they have, nor are they aware of them, although this is important information for both moms and dads. We collected the chromosome aberrations we've heard about, but we don't know much, and those that we haven't heard about most, but there are a lot of filters to choose from.

Down kуr

The Down lobe occurs when one or a portion of chromosome 21 is present in an extra instance. This leads to additional genetic material developmental disorder and leads to the development of good traits along with Down's course. One of the most common physical traits of Down's is low muscle tone, that low height, the oblique grains, and palyéren veggie with a deep beard. Apart from this, every person with Down's Lane who has these traits in varying degrees, or is completely absent.As a 1: 350, 35-year-old women are at risk of developing a disorder in their children; At the age of 40, the odds are gradually increasing to 1: 100. At the age of 45, the incidence is about 1 in 30. Although Down's syndrome is a genetic disorder, only 1% of cases can be attributed to a known factor. You can read more about Down-Curve here.

Edwards kуr

Rare chromosomal aberration. The cause of the disease is that one piece of chromosome 18, or the entire chromosome itself, is present in one or more instances in cells of the body. The Edwards Cure is present at an average of 3,000 conceptions, and an average of 6,000 deaths per patient infant. Many of the affected newborns can observe the growth retardationas well as Arrival and Layout Problems.Baby's development may be lagging behind, mental disability can be raised, and in infants a rejtettherйjыsйg. Problems with movement development, heart and breathing problems they can be. If the parents had one child born with Edwards' course, there is a greater chance that the next baby will have the same course.


Rare chromosomal aberration. The cause of the disease is that parts of chromosome 13, or the entire chromosome itself, are present in one or more instances in cells of the body. A characteristic symptom of the Patau-kur is a szбjpadhasadйk or by another name cleft palate. Elхfordulhatnak extra fingers or toes also: most often, one tiny finger above the toe appears. Fingers or toes may appear together: this is the second most common toe to third. THE location of eyes and ears also irregular. The brain, kidneys, and heart can also have serious problems with their development. Patu's is not hereditary, but in some cases it can happen.

Turner Syndrome (X0)

Turner syndrome (also known as Ullrich-Turner syndrome) is an exceptionally female chromosomal disorder. Its most common feature is low room, which is clearly noticeable around the age of 5. THE premature failure of ovarian function (ovarian malformation or completely immature ovaries) are also common. Turner syndrome also affects one in every 2500 children around the world. In many cases, however, these fetuses do not give birth or do not survive until the time of birth. In most cases, it is not known.

Triple X Syndrome (XXX)

In the case of triple X syndrome, also known as the trisomy of the X chromosome, an extra copy of the X chromosome is also present in all of the female body cells. The overwhelming majority of those affected are completely normal in their sexual development and have no barriers to having a baby. However, those living with this disorder may be more likely to be present learning disabilities, the average speech and language development may be slower. Your motor skills - for example, life and fitness - can be shown to improve. muscle weakness, and behavioral, emotional problems may also appear. However, the incidence of these traits varies greatly between the affected girls and women. The syndrome is about one thousand newborns. However, it is also important to know that triple X syndrome is in most cases non-communicable and non-communicable.

Double Y Syndrome (XYY)

Double Y syndrome - or XYY syndrome - is caused by the presence of an additional Y chromosome in males. In this case, the body cells carry 47 chromosomes (47, XYY) instead of the usual 46. It does not come with unusual physical characteristics, so most men with XYY syndrome are not even aware that chromosome aberration is different. cause learning disorder, or involuntary movements, but the frequency of symptoms varies greatly among those affected. In most cases, the syndrome is not encapsulated.

Klinefelter Syndrome (XXY)

Klinefelter syndrome is a chromosomal disorder that affects the physical and cognitive development of men. Characteristics of the syndrome complex are variable, but the affected individuals produce less testosterone hormone than normal, smaller size testicles are present. Klinefelter syndrome affects about 500-1000 newborns. It is important to know that Klinefelter syndrome and its variants are not transmitted.

Delicious syndrome

Microdeletion syndromes are rare genetic diseases that are caused by the deficiency (deletion) of a very small section of a chromosomal DNA. The following abnormalities and symptoms occur depending on which chromosome, deletion and length of the deletion. Clinical tьnetek may therefore elйg vбltozatosak, the most common kцvetkezmйnyek the vбltozу sъlyossбgъ intellectual disability, heart, respiratory, digestive, and respiratory system disorders And diseases affecting the immune system.
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