2q37 Deletion Syndrome
Description
2q37 Deletion Syndrome, also known as 2q37 microdeletion syndrome, is a rare genetic disorder that occurs when a small piece of chromosome 2 is missing. This deletion can lead to a variety of physical, developmental, and cognitive challenges. This blog post will provide a comprehensive overview of 2q37 Deletion Syndrome, covering its causes, signs and symptoms, diagnosis, management, and strategies for thriving.
Genes Involved
The specific genes affected by the deletion on chromosome 2 vary depending on the size and location of the deletion. However, some commonly affected genes include:
- USP17L: Involved in protein degradation and cell cycle regulation.
- CRK: Plays a role in cell growth and development.
- NLGN4X: Associated with neurodevelopmental disorders, particularly autism spectrum disorder.
Recognizing the Signs and Symptoms
Recognizing the Signs and Symptoms of 2q37 Deletion Syndrome can be challenging, as individuals may experience a wide range of features. Some common signs and symptoms include:
- Developmental Delays: Speech, language, and motor skills may be delayed.
- Cognitive Challenges: Learning difficulties, intellectual disability, and autism spectrum disorder are possible.
- Physical Features: Distinct facial features may include a small head (microcephaly), a prominent forehead, widely spaced eyes (hypertelorism), a small jaw (micrognathia), and a cleft palate.
- Other Health Issues: Heart defects, seizures, and gastrointestinal problems can occur.
Causes
2q37 Deletion Syndrome is caused by a random genetic event during the formation of egg or sperm cells. This event, known as a de novo mutation, occurs spontaneously and is not inherited from the parents. In rare cases, the deletion can be inherited from a parent who carries a balanced translocation.
Inheritance/recurrence risk
The risk of recurrence for 2q37 Deletion Syndrome is low, as the condition is usually caused by a de novo mutation. However, if a parent carries a balanced translocation, the risk of passing on the deletion to their children is increased.
