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Mosaicism is a genetic defect that occurs during the development of the embryo, which has different cell lines. development of the embryo, which has different cell lines. The mosaic individual has two distinct genetic materials: one formed by the union of the gametes of the father and the mother, and the other that appears due to the genetic mutation. Generally the mutation occurs in a cell of the embryo, involving the loss or duplication of a chromosome, so the person will have in his or her bo

Mosaicism is a genetic defect that occurs during the development of the embryo, which has different cell lines. development of the embryo, which has different cell lines. The mosaic individual has two distinct genetic materials: one formed by the union of the gametes of the father and the mother, and the other that appears due to the genetic mutation. Generally the mutation occurs in a cell of the embryo, involving the loss or duplication of a chromosome, so the person will have in his or her bo

or Gonadal: it affects the spermatozoa or ovules, with alterations that are able to be transmitted to the children

Somatic

: in which the cells of any other places of the body carry this mutation, and the person may or may not develop physical changes caused by it. Thus, the physical expression of the mutation depends on which and how many cells in the body are affected. Somatic mosaicism can be passed from parents to children.

  • mixed mosaicism occurs when the person has the two types of mosaicism, both germinative and somatic.
  • The phenomenon occurs during development embryonic, either in the natural process of pregnancy or through in vitro fertilization processes. Health problems more linked to mosaicism

Germinal mosaicism or Gonadal: Turner's syndrome is one of the examples of diseases caused by changes in germ cells, as well as imperfect type II osteogenesis, Duchenne muscular dystrophy, and hemophilia Somatic mosaicism

: Neurofribromatosis, cancer, and Down syndrome are examples of this type of mosaicism. Every embryo in which mosaicism occurs has difficulties in implanting and suffering abortions? Or can a person be born even as a mosaic embryo?

The influence of mosaicism on the development of the fetus will depend on the number of abnormalities, the tissues involved, and the altered chromosome. In cases of assisted fertilization, the low number of embryo cells in development is considered before it is implanted in the maternal uterus. If altered cells develop, genetic errors can have serious consequences, since these cells will give rise to all embryonic or extra-embryonic tissues of the fetus, and any sustained abnormality may have a risk impact throughout development, both for the patient as well as for your baby.

  • However, recent studies describe rare cases of transfer of mosaic embryos that have generated a pregnancy and a normal child. A study published in the respected scientific journal New England Journal of Medicine showed that among 3,802 embryos in the blastocyst stage, the mosaicism rate was 4.8% (181 embryos). In this same study, 18 embryos with a rate of 35 to 50% of mosaicism were transferred; from these transfers, only 6 normal pregnancies, 2 biochemical pregnancies, and 10 non-pregnant women were generated, indicating a 66.66% failure rate. When mosaicism is confined to some specific tissue, what can it cause ?
  • The cases most known to science are those of mosaicism confined to the placenta, with a rate of 1-2% in gestation, may be associated at the end of gestation with a restriction of growth without apparent cause (idiopathic). However, in 10 to 23% of the cases, it may represent a true mosaicism, in which the chromosomal alteration will be present, both in the placental tissue and in the fetus.


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