📂 Diseases
Emanuel syndrome — Definition
Emanuel sendromu / Emanuel syndrome
Emanuel syndrome is a rare genetic disease that occurs as a result of unbalanced translocation between 11. and 22. chromosomes. The disease manifests itself with symptoms such as mental disability, microcephalus, half palate, heart defects and characteristic facial appearance. It is often seen in the child if one of the parents has a balanced translocation carrier. The diagnosis is put on chromosome analysis and genetic tests; it requires multidisciplinary approach for treatment symptoms.
Frequently Asked Questions
❓ What is Emanuel sendromu?
Emanuel sendromu; emanuel syndrome is a rare genetic disease that occurs as a result of unbalanced translocation between 11. and 22. chromosomes. The disease manifests itself with symptoms such as mental disability, microcephalus, half palate, heart defects and characteristic facial appearance. It is often seen in the child if one of the parents has a balanced translocation carrier. The diagnosis is put on chromosome analysis and genetic tests; it requires multidisciplinary approach for treatment symptoms.
❓ What is Emanuel syndrome in Turkish?
The Turkish equivalent of "Emanuel syndrome" is Emanuel sendromu.
❓ Which medical field is Emanuel sendromu related to?
This term belongs to the Diseases category.