Wolf-Hirschhorn syndrome is caused by a specific genetic change: a missing piece of chromosome 4.
Understanding Wolf-Hirschhorn Syndrome and its Genetic Cause
Wolf-Hirschhorn syndrome is a genetic disorder caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. This missing piece is often written as 4p-. The size of the deletion can vary among affected individuals, which leads to varying degrees of severity in the signs and symptoms of the syndrome.
- Chromosomal Deletion: The primary cause is a deletion on the short arm (p) of chromosome 4. This missing genetic material leads to the various characteristics associated with Wolf-Hirschhorn syndrome.
- Variable Severity: The size of the deletion varies. Larger deletions typically result in more severe symptoms.
- Not Always Inherited: In most cases, the deletion is de novo, meaning it occurs randomly during the formation of reproductive cells (eggs or sperm) or in early embryonic development. Parents of a child with Wolf-Hirschhorn syndrome usually have normal chromosomes.
- Rare Inheritance: Rarely, the deletion is inherited from a parent who carries a balanced translocation. A balanced translocation means the parent has rearranged chromosomes, but no genetic material is gained or lost. These individuals are typically unaffected but have a higher risk of having children with chromosomal disorders.
Therefore, the root cause of Wolf-Hirschhorn syndrome is a deletion in the genetic material on the short arm of chromosome 4, scientifically noted as 4p-.
