Monosomy 6p25 synonyms

Monosomy 6p25 is a genetic disorder characterized by the deletion of a portion of the short arm of chromosome 6. This condition is also known by several synonyms, which include:

• 6p25 deletion syndrome: This term is commonly used to describe the condition, highlighting the specific deletion on the short arm of chromosome 6 at position 25.


• 6p deletion syndrome: This synonym refers to the deletion of a portion of chromosome 6, specifically on the short arm.


• Chromosome 6p25 deletion syndrome: This name emphasizes the involvement of chromosome 6 and the specific region affected by the deletion.


• 6p monosomy: This term indicates the loss of one copy of chromosome 6, specifically on the short arm at position 25.

Individuals with Monosomy 6p25 may exhibit a range of physical and developmental features, which can vary in severity. Common characteristics include intellectual disability, delayed speech and language development, growth delays, distinctive facial features, and skeletal abnormalities. Additionally, individuals with this condition may experience heart defects, kidney abnormalities, and vision or hearing impairments.

Diagnosis of Monosomy 6p25 is typically confirmed through genetic testing, such as chromosomal microarray analysis. Early intervention and management strategies can help address the specific needs of individuals with this condition, focusing on developmental, educational, and medical support.

It is important for individuals with Monosomy 6p25 and their families to work closely with healthcare professionals, genetic counselors, and support networks to ensure comprehensive care and appropriate interventions.