About Distal trisomy 18q

What is Distal trisomy 18q?

Distal trisomy 18q is a rare chromosomal disorder caused by an extra copy of genetic material on the long arm (q) of chromosome 18. It is characterized by a wide range of physical and developmental abnormalities, including intellectual disability, growth delays, and facial abnormalities.

What are the symptoms of Distal trisomy 18q?

The symptoms of Distal trisomy 18q vary from person to person, but may include:

-Developmental delay
-Growth retardation
-Feeding difficulties
-Seizures
-Heart defects
-Kidney abnormalities
-Hearing loss
-Cleft lip and/or palate
-Cognitive impairment
-Behavioral problems
-Facial dysmorphism
-Abnormalities of the hands and feet
-Gastrointestinal problems
-Hypotonia (low muscle tone)
-Genital abnormalities

What are the causes of Distal trisomy 18q?

Distal trisomy 18q is a rare chromosomal disorder caused by an extra copy of genetic material on the long arm (q) of chromosome 18. This extra genetic material can cause a variety of physical and developmental problems. The exact cause of distal trisomy 18q is unknown, but it is believed to be due to a random error in cell division during the formation of reproductive cells (eggs and sperm) or in early fetal development.

What are the treatments for Distal trisomy 18q?

Unfortunately, there is no cure for Distal trisomy 18q. Treatment focuses on managing the symptoms and providing supportive care. This may include physical therapy, occupational therapy, speech therapy, and other interventions to help the individual reach their fullest potential. In some cases, medications may be prescribed to help manage seizures or other medical conditions.

What are the risk factors for Distal trisomy 18q?

1. Advanced maternal age
2. A family history of chromosomal abnormalities
3. Abnormal prenatal ultrasound
4. Abnormal maternal serum screening test results
5. Abnormal amniocentesis results
6. Abnormal fetal echocardiogram results
7. Abnormal fetal karyotype results

Is there a cure/medications for Distal trisomy 18q?

Unfortunately, there is no cure for distal trisomy 18q. Treatment focuses on managing the symptoms and complications associated with the condition. Medications may be prescribed to help with certain symptoms, such as seizures or breathing difficulties. Physical, occupational, and speech therapy may also be recommended to help with development and mobility.