2p243

2p243 refers to a specific genetic abnormality involving chromosome 2. More precisely, it signifies a deletion, a type of chromosomal mutation where a segment of the short arm (denoted by 'p') of chromosome 2 is missing. The number '243' indicates the specific band location on the chromosome where this deletion occurs. This region is a precise segment of the chromosome, typically identified through cytogenetic analysis.

The consequences of a 2p243 deletion can vary significantly depending on the size and exact genes involved within the deleted segment. Genetic deletions can lead to a range of developmental issues and health concerns. These may include intellectual disability, developmental delays, distinctive facial features, and other congenital anomalies. The severity and specific presentation of symptoms are highly dependent on the genetic material lost and its role in development and bodily function. Diagnosis is usually made through genetic testing, such as chromosomal microarray analysis or FISH (fluorescent in situ hybridization), which can detect deletions and other chromosomal abnormalities. Management is typically supportive and focused on addressing the individual's specific needs and challenges.