The question as stated is misleading, as humans normally have 23 pairs of chromosomes, for a total of 46. It is the DiGeorge syndrome, also known as 22q11.2 deletion syndrome, that is related to chromosome 22.
Rather than a disorder caused by having 22 chromosomes, DiGeorge syndrome arises from a deletion of a small part of chromosome 22.
Understanding DiGeorge Syndrome
- Definition: DiGeorge Syndrome, often referred to as 22q11.2 deletion syndrome, occurs when a small segment of chromosome 22 is missing.
- Cause: This genetic deletion affects the development of multiple body systems.
- Reference: As noted in the reference, "DiGeorge syndrome, also known as 22q11. 2 deletion syndrome, is a condition caused when a small part of chromosome 22 is missing."
Impact of the Deletion
The 22q11.2 deletion can lead to a wide range of health issues. The reference mentions that this deletion causes several body systems to develop poorly. Here are some common implications:
- Heart Defects: Congenital heart problems are often seen in individuals with DiGeorge syndrome.
- Immune System Issues: Thymus gland development is impacted, leading to immune deficiencies and susceptibility to infections.
- Facial Features: Distinct facial traits might be present.
- Learning and Developmental Delays: There may be cognitive and developmental challenges.
- Hypocalcemia: Low calcium levels can occur due to parathyroid gland issues.
Key Takeaway
It's crucial to note that DiGeorge syndrome isn't about having 22 chromosomes, but about having a deletion of a portion of chromosome 22. This distinction is vital for understanding the disorder's genetics and its diverse health implications.
