What is terminal deletion?

Terminal deletion is a rare genetic disorder characterized by the loss of genetic material from the end (terminal) of a chromosome. This condition can affect any chromosome, but it most commonly involves chromosome 4, 9, or 18.

The severity of terminal deletion varies depending on the size and location of the missing genetic material. In some cases, it may not cause any noticeable symptoms, while in others it can result in developmental delays, intellectual disability, growth abnormalities, and congenital anomalies.

The condition is usually caused by a spontaneous deletion of genetic material during fetal development, and it is not usually inherited. Diagnosis can be made through genetic testing, which can identify the specific chromosome affected and the size and location of the missing genetic material.

There is no cure for terminal deletion, but treatment is focused on managing symptoms and providing supportive care. This can include physical therapy, occupational therapy, speech therapy, and educational interventions. The prognosis for individuals with terminal deletion varies depending on the severity of their symptoms, but many can live relatively normal and fulfilling lives with appropriate care and support.