What is Chromosome 9 Trisomy?

Posted on Posted in Diagnoses

Chromosome 9, Trisomy Mosaic, is a rare chromosomal triplication where there are three copies of the chromsome 9 instead of the usual two copies in a percentage of cells in the body. Chromose 9 Trisomy Complete is a rare triplication of chromosome 9 is in every cell of the body.

The severity of this disorder depends on the percentage of affected cells. Problems common in cases of Chromosome 9 Trisomy are Interuterine Growth Restriction (IUGR), cognitive disability, congental heart defects, craniofacial abnormalities including sloping forehead, bulbous nose, and  low-set, malformed ears. There may also be abnormalities of the muscles or skeleton, kidneys, genitals.

This disorder may also be called Trisomy 9 Mosiac, Complete Trisomy 9 Syndrome or Chromosome 9.

Chromosome 9, Trisomy Mosiac—NORD RareDiseases.org

Chromosome 9, Trisomy Mosiac—Web MD

 

Parents Stories of Ending a Wanted Pregnancy involving Chromosome 9