Trisomy 13 Syndrome

Madysen Costello

Causes

  • 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

Characterized by mental retardation, moderate-severe developmental delays, abnormally diminished muscle tone, abnormalities of the head and facial area, along with other possible physical abnormalities.

According to reports in the medical literature, craniofacial features and other physical abnormalities associated

Some Illustrations

Affected Populations

  • Appears to affect males and females in equal numbers.
  • At least 50 cases have been reported in the medical literature. In some cases, the disorder may be suspected before birth based upon the results of specialized tests.

Therapies

  • 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.

Diagnosis

  • 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.
Incompatible with Life | Brandon Bosma | TEDxYouth@Edmonton

Brandon Bosma

The researched Trisomy is very rare to come across, and this defect has different variations, Trisomy 21, 13, and 18. Brandon lives with Trisomy 18.