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Patau's Syndrome


Information of Patau's Syndrome

Patau's Symdrome is yet another genetic chromosomal disorder caused by an error in cell division resulting on additional third chromosome 13. Patau's Symdrome is pretty rare and the medical problems associated with Patau's syndrome, occurs in approximately one among 13000 births. This is the third most common syndrome after Down's syndrome and Edward's syndrome. Human body cells contain 23 pairs of chromosomes inherited from parents. Human reproductive cells, the sperm cells in male and ovum in females each have 23 individual chromosomes, known as XX in females and XY in males and number 1 through 22. If after fertilization the egg contains extra material from chromosome 13, will cause Patau's syndrome.

Most of the suffering infants die within a few weeks of birth.

Cause of Patau's Syndrome

Trisomy X

Different types and variation of Patau's Syndrome

  1. Partial & Translocation Trisomy 13: In partial trisomy only one single part of extra chromosome is present. In some cases the partial trisomies may be translocated, .the additional chromosome 13 may stuck to another chromosome or additional chromosome may be translocated resulting in no increase in the number of chromosomes from 46. Translocational trisomies may be caused by parent's translocation, and such trisomies may be hereditary.
  2. Trisomy 13: Majority of Patau's syndrome falls in this category. In a situation, where all cells of individual contains additional chromosome 13, is known as Trisomy 13.  This type of Patau's syndrome (Trisomy 13) is not hereditary, but they occur at cell division stage.
  3. Mosaic Trisomy 13 : In mosaic trisomy 13, additional chromosome 21 may be present in some cells, but not in all the cells.

Symptom of Patau's Syndrome

Structural abnormalities of the brain, lip and palate, polydactyl

Confimatory Tests for Patau's syndrome in Unborn Child:

There are quite a few diagnostic tests available for Patau's syndrome - Amniocentesis: This test is required to be carried out during 14-18 week of pregnancy. A small amount of fetal cell is collected from amniotic fluid and examined. Chorionic Villus Sampling: Although this test carries a small amount of risk of miscarriage. A small amount of fetal tissue is collected during 9-11 week pregnancy and tested for additional or extra material chromosome 13.

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