Trisomy 13 Syndrome
- In some individuals (75%), Chromosome 3, Trisomy 3q2 may be due to the presence of a “balanced” rearrangement in one of the parents. The rearrangement is a translocation, but inversions may also be involved.
- Translocations occur when regions of different chromosomes break off and are interchanged, resulting in shifting of genetic material and an altered set of chromosomes.
- An unbalanced translocation occurs when only one of the two chromosomes involved in the translocation is inherited from a carrier parent. The result is too much (duplication or trisomy) or too little (deletion or monosomy) chromosomal material. Chromosomal testing may determine whether a parent has a balanced translocation.
In some affected individuals, duplication of chromosome 3q2 has appeared to occur spontaneously for unknown reasons during early embryonic development. The parents of a child with a “de novo” duplication usually have normal chromosomes and a relatively low risk of having another child with the chromosomal abnormality.
Symptoms and Effects
According to reports in the medical literature, craniofacial features and other physical abnormalities associated
- treatment may include surgical repair of certain craniofacial, digital, ocular, cardiac, or other abnormalities potentially associated with the disorder.
- Early intervention may be important for children with Chromosome 3, Trisomy 3q2 to reach their potential. Services that may be beneficial include special education, physical therapy
- Genetic counseling will also be of benefit for individuals with Chromosome 3, Trisomy 3q2 and their families.
- may be suggested prenatally by specialized tests such as ultrasound, amniocentesis, or chorionic villus sampling (CVS).
- The diagnosis of Chromosome 3, Trisomy 3q2 is made at birth/infancy based on thorough clinical evaluations, detection of characteristic physical findings, and chromosomal analysis.