What is the prevalence of 1p36 Deletion Syndrome?
How many people does 1p36 Deletion Syndrome affect? Does it have the same prevalence in men and women? And in the different countries?
1p36 Deletion Syndrome is a rare genetic disorder caused by the deletion of a small piece of chromosome 1. It is considered one of the most common subtelomeric microdeletion syndromes. The prevalence of this syndrome is estimated to be around 1 in 5,000 to 1 in 10,000 live births. It affects both males and females equally and has been reported in various ethnic groups worldwide. Individuals with 1p36 Deletion Syndrome often experience developmental delays, intellectual disabilities, and distinct facial features. Early diagnosis and intervention are crucial for managing the condition and providing appropriate support.
1p36 Deletion Syndrome is a rare genetic disorder caused by the deletion of a small piece of chromosome 1. It is considered one of the most common subtelomeric microdeletion syndromes, meaning the deletion occurs near the end of the chromosome. The prevalence of 1p36 Deletion Syndrome is estimated to be approximately 1 in every 5,000 to 10,000 live births.
This syndrome affects individuals of all ethnicities and both genders equally. The severity of symptoms can vary widely, but common features include intellectual disability, delayed development, low muscle tone, distinctive facial features, seizures, heart defects, and hearing or vision problems.
Due to the rarity of 1p36 Deletion Syndrome, it may often go undiagnosed or misdiagnosed. Genetic testing, such as chromosomal microarray analysis, is typically used to confirm the diagnosis. Early intervention and ongoing medical care can help manage the symptoms and improve the quality of life for individuals with this syndrome.
