In Karaman, one person was admitted to the hospital with mental retardation and social maladjustment. The patient was diagnosed with “Imagawa-Matsumoto Syndrome”, which is seen in only 13 people in the world.
Karamanoglu Mehmetbey University (KMU) Faculty of Medicine Head of Medical Genetics Department Prof. Dr. Emine Berrin Yuksel, in her written statement, stated that the syndrome, which has only 13 cases in the world, was detected in a patient in Karaman.
‘WE ARE IN PREPARATIONS FOR INTERNATIONAL PUBLICATION’
Stating that they did genetic analysis and research on the patient’s complaints, Yuksel said, “At the first stage, when we saw that the data in the tests were normal, we went to the next step. We determined that there was a 1.5 megabase loss in the genome of our patient, and that the SUZ12 gene, which contains this loss, caused this disease. To date, only 13 in the world. We have identified the 14th of the syndrome diagnosed as KMU Faculty of Medicine. We are in preparation for an international publication on the case.” used the phrases.
KMU Rector Prof. Dr. Namik Ak also said:
“Doubting such a rare case in the world, going after it and catching this diagnosis is a reflection of experience, self-confidence and self-sacrificing work. As the current academic staff and physical infrastructure of younger universities like ours develop, this and similar successes continue as well as our country’s distinguished educational institutions. will come.”
Hello, I want to ask about the contact of a doctor who could help us. I have a daughter who was diagnosed with Imagawa-matsumoto syndrome. She doesn’t have most of the typical symptoms, yet we got her. Since this is a rare syndrome, I have no one to turn to for help or treatment, if it is available at all. Can you please advise me?