18RHEPE
18RHEPE is a rare and complex genetic disorder characterized by the presence of an extra copy of chromosome 18, specifically the long arm (18q). This condition is also known as trisomy 18q and is a subset of trisomy 18, which is caused by the presence of an extra copy of chromosome 18. The 18RHEPE syndrome is distinguished by the presence of a Robertsonian translocation, where part of chromosome 18 has fused with part of another chromosome, typically chromosome 14 or 21.
Individuals with 18RHEPE syndrome typically exhibit a range of physical and intellectual disabilities. Common features include
The diagnosis of 18RHEPE syndrome is usually confirmed through genetic testing, which may involve karyotyping or