Other trisomies and partial trisomies of the autosomes, not elsewhere classified digital illustration

Other trisomies and partial trisomies of the autosomes, not elsewhere classified Save


ICD-10 code: Q92

Chapter: Congenital malformations, deformations and chromosomal abnormalities

Other trisomies and partial trisomies of the autosomes, not elsewhere classified

Trisomy refers to the presence of an extra chromosome in a person's genetic makeup. Chromosomes are long strands of DNA that carry an individual's genetic information. Trisomy of the autosomes occurs when there is an extra copy of one of the 22 pairs of chromosomes that are not sex chromosomes. Trisomy can lead to various developmental and medical issues.

In some cases, trisomy of the autosomes may be classified as a specific condition, such as Down syndrome (trisomy 21). However, there are other trisomies and partial trisomies of the autosomes that are not categorized elsewhere. These conditions are relatively rare and may have different symptoms and outcomes depending on the specific chromosome involved and the extent of the trisomy.

Types of Other Trisomies and Partial Trisomies of the Autosomes

Here are some examples of other trisomies and partial trisomies of the autosomes, not elsewhere classified:

  1. Trisomy 9p: This condition occurs when there is an extra copy of the short arm of chromosome 9. Symptoms may include developmental delay, intellectual disability, and distinctive facial features.
  2. Trisomy 13q: This type of trisomy involves an extra copy of the long arm of chromosome 13. Symptoms may include intellectual disability, seizures, and facial abnormalities.
  3. Trisomy 16p: This condition is caused by an extra copy of the short arm of chromosome 16. Symptoms may include developmental delay, intellectual disability, and congenital heart defects.
  4. Trisomy 22q: This type of trisomy involves an extra copy of the long arm of chromosome 22. Symptoms may include developmental delay, intellectual disability, and heart defects.

There are other types of autosomal trisomies and partial trisomies that are not classified elsewhere, and each may have its own distinct symptoms and outcomes.

Treatment and Management

There is no cure for autosomal trisomies, and treatment is typically focused on managing symptoms and providing supportive care. Depending on the specific condition, treatment may involve physical therapy, speech therapy, and medication to control seizures or other medical issues. In some cases, surgery may be necessary to correct structural abnormalities such as heart defects.

In summary, other trisomies and partial trisomies of the autosomes, not elsewhere classified, are rare conditions that can lead to various developmental and