Translocation Down syndrome happens when an extra piece of the 21st chromosome sticks to another chromosome. This extra genetic material causes the health issues seen in people with Down syndrome.
Translocation Down syndrome happens when an extra piece of the 21st chromosome sticks to another chromosome. This extra genetic material causes the health issues seen in people with Down syndrome.
What is translocation Down syndrome?
Translocation Down syndrome is a genetic condition where part of chromosome 21 attaches to another chromosome. It accounts for about 4% of Down syndrome cases.
How is translocation Down syndrome diagnosed?
It is diagnosed through genetic testing, such as a karyotype analysis, which identifies the extra chromosome material. This test can confirm the presence of translocation Down syndrome.
What are the common symptoms of translocation Down syndrome?
Symptoms are similar to other forms of Down syndrome, including developmental delays, intellectual disability, and characteristic facial features. However, each individual’s symptoms can vary widely.
Can translocation Down syndrome be inherited?
Yes, translocation Down syndrome can be inherited from a parent carrying a balanced translocation. Genetic counseling can help determine the risk of recurrence in future pregnancies.
Translocation Down syndrome is a rare type of Down syndrome that occurs when a portion of chromosome 21 becomes attached (translocated) to another chromosome before or at conception. This extra chromosomal material is responsible for the characteristic features and developmental problems associated with Down syndrome. Translocation Down syndrome accounts for approximately 4% of all cases of Down syndrome.
The symptoms of translocation Down syndrome are similar to those of other types of Down syndrome.
| Physical Features | Developmental Issues |
|---|---|
| Flattened facial features | Delayed speech and language skills |
| Upward slanting eyes | Mild to moderate intellectual disability |
| Small ears and mouth | Delayed motor skill development |
While each child with translocation Down syndrome is unique, early recognition of these signs allows for timely interventions and support.
