![]() ![]() With further examination, the following problems are identified: Semilunar fold at the inner corner of the eyes.The most common external symptoms, with their help, doctors presumably diagnose the pathology immediately after the birth of the baby. But ultrasound does not give a 100% guarantee of the presence of the disease, but allows you to assess the likelihood of malformations in the fetus. They are manifested by an increase in the collar zone. The first signs can be seen on ultrasound at 8-12 weeks of pregnancy. Mosaic Down's syndrome has less pronounced symptoms, in contrast to the classical form of the disorder. Most of the kids are trained, despite the mental, physical and mental lag. The degree of manifestation of the disease depends on the inherent factors and the right treatment. Propensity to frequent infectious and respiratory diseases. First of all, it is cognitive backwardness, heart defects, problems with teeth, eyes, back, hearing. The disease causes a number of deviations in development and health. ![]() Specific skin fold on the palms of the children.Short limbs and a large distance between the thumb and forefinger on the legs.Muscle weakness, decreased strength function, weakness of the abdominal cavity (sagging belly).The main physical symptoms of the disease: Symptoms of mosaic Down's syndrome are manifested by a lag in mental and physical development. Thanks to preimplantation diagnostics and other research methods, the risk of giving birth to a Down's child is significantly reduced.Īn abnormal genetic feature of the organism, arising with an increase in the number of chromosomes, has a number of external and internal signs. There are suggestions that the development of malaise may be due to the age at which the grandmother gave birth to the mother and other factors. Bad habits - negatively reflect on the health of the baby's future, so tobacco abuse during bearing can lead to a genomic anomaly.Incest - marriage between blood relatives entails genetic mutations of varying severity, including trisomy.In this case, there is a predisposition to only certain types of syndrome. Heredity - medicine is known to the case when the defect was inherited from close relatives, taking into account the fact that both parents are absolutely healthy.That is, the older the man, the higher the chances of pathology. Age of the father - many scientists claim that the genetic disease depends not so much on the age of the mother, as on how old the father is.Late childbirth - women of 20-25 years of age have minimal chances of having a baby with a disease, but after 35 years the risk increases significantly.But the chances of having a sick child increase in such circumstances: Risk factors for its development are not related to lifestyle or ethnicity. ![]() Trisomy is a genetic disease that can not be acquired during life. With the carrier on the part of the mother - 10-15%. If there are such violations in the father, the risk of having a sick child is 3%. Such changes can be random or inherited from a parent who acts as a carrier of translocation and a normal phenotype. The main objects of translocation are 14, 15, less often 4, 5, 13 or 22 chromosomes. With the translocation form, which occurs in 4-5% of patients, the 21st chromosome or a fragment of it is translocated to the autosome under meiosis, penetrating with it into the newly formed cell. Mosaicism is characterized by trisomy in the derivatives of the affected cell, while the rest have a normal chromosomal set. About 1-2% of cases are caused by a violation of mitosis of the embryo cells at the stage of gastrula or blastula. Copies of the 21st chromosome are present in all cells, since during division of the meiosis in the parental cells, division of the pair chromosomes is disrupted. The formation of abnormal gametes can be associated with certain diseases of the genital area of parents, radiation, smoking and alcoholism, the use of medications or narcotic substances, as well as the environmental situation of the place of residence.Ībout 94% of the syndrome is associated with simple trisomy, that is: karyotype 47, XX, 21+ or 47, XY, 21+. Inheritance of a genetic mutation from a mother or father. ![]()
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