What is trisomy 9P

Trisomy 9

1 definition

A Trisomy 9 is a relatively seldom occurring genetic disorder in which the genome of chromosome 9 is tripled in all or some of the body's cells. Normally there is a so-called diploid set of chromosomes. I. E. there are two copies of the 9th chromosome (except in germ cells). Trisomy 9 is caused by a genome mutation.

2 story

Trisomy 9 was first described in 1973 by the scientists Atkins and Feingold.

3 variants

  • RethorĂ© syndrome: There is a trisomy in some of the cells. Usually the short arm of chromosome 9 is tripled.
  • Balanced translocation: Part or all of the chromosome has attached to another. The process of movement of the chromosome that precedes this state is called translocation.
  • Mosaic trisomy 19: Not all cells have a triple set of chromosomes; there is also at least one cell line with the usual disomic (double) set.

4 symptoms

5 diagnosis

Due to the sheer confusion of symptoms, it is not possible to make a diagnosis based on clinical signs. One reason for this is that many of the symptoms mentioned indicate other forms of trisomy. An unequivocal diagnosis can only be obtained from an exact chromosome analysis. The following procedures are used for prenatal diagnostics:

6 differential diagnoses

7 therapy

There is no causal therapy for trisomy 9, regardless of the subspecies. Only a few symptoms can be alleviated. Many affected children die shortly after birth.