1p36 Deletion Syndrome
Description
1p36 deletion syndrome is a rare genetic disorder caused by the deletion of a portion of chromosome 1. This deletion leads to a variety of developmental delays and physical features that vary in severity from person to person. This blog will provide information about the causes, symptoms, diagnosis, management, and resources available for individuals and families affected by 1p36 deletion syndrome.
Genes Involved
The specific genes involved in the deleted region of chromosome 1 can vary, but some commonly affected genes include:
- CRKL: Plays a role in cell growth and development.
- FGF2: Involved in bone growth and development.
- PAX6: Essential for eye development.
- MAPK1: Involved in cell signaling pathways.
- HOXA11: Influences limb development.
Recognizing the Signs and Symptoms
The signs and symptoms of 1p36 deletion syndrome vary widely, but common features include:
- Developmental Delays: Cognitive, speech, and motor delays are common. Some individuals may have mild delays, while others may have more significant challenges.
- Physical Features: Facial features may include a wide forehead, a flat nasal bridge, a prominent philtrum (the groove between the nose and upper lip), and a downturned mouth. Other physical features can include short stature, small hands and feet, and heart defects.
- Behavioral Issues: Some individuals with 1p36 deletion syndrome may experience behavioral challenges, such as autism spectrum disorder, attention-deficit hyperactivity disorder (ADHD), or anxiety.
- Other Medical Issues: Additional health problems can include seizures, hearing loss, vision problems, and gastrointestinal issues.
Causes
1p36 deletion syndrome occurs when a portion of chromosome 1 is missing. This deletion can happen randomly during the formation of sperm or egg cells, or it can be inherited from a parent. The size and location of the deletion can influence the severity of the syndrome.
Inheritance/recurrence risk
In most cases, 1p36 deletion syndrome is not inherited. It occurs as a random event during the formation of egg or sperm cells. However, there is a small chance that the deletion could be inherited from a parent who carries the deletion but does not have the syndrome. The risk of recurrence in future pregnancies is low, but genetic counseling can provide more accurate information.
