1q211 Deletion Syndrome
Description
1q21.1 deletion syndrome is a rare genetic disorder that occurs when a small piece of chromosome 1 is missing. This deletion can lead to a range of developmental and physical challenges, depending on the size and location of the deletion. While there is no cure for 1q21.1 deletion syndrome, early diagnosis and appropriate support can help individuals thrive.
Genes Involved
The specific genes affected by the 1q21.1 deletion vary depending on the size and location of the deleted segment. Some genes commonly associated with this syndrome include:
- GTF2IRD1: This gene plays a role in brain development and function.
- RNF135: This gene is involved in cell growth and development.
- NDRG1: This gene may be related to the development of heart and kidney problems.
Recognizing the Signs and Symptoms
The symptoms of 1q21.1 deletion syndrome can vary widely from person to person, but some common signs include:
- Developmental delays: Speech, language, and cognitive development may be affected.
- Behavioral challenges: Individuals may experience hyperactivity, impulsivity, or difficulty with social interactions.
- Physical features: Distinctive facial features such as a broad forehead, prominent eyes, and a small chin can be present. Other physical features may include heart defects, kidney problems, or skeletal abnormalities.
- Seizures: Some individuals with 1q21.1 deletion syndrome may experience seizures.
Causes
1q21.1 deletion syndrome is caused by a random event that occurs during the formation of egg or sperm cells. This event is not usually inherited from parents.
Inheritance/recurrence risk
The risk of having another child with 1q21.1 deletion syndrome is very low. However, genetic counseling can help families understand their individual risks.
