Prof. Mehmet Haberal is presented with The Award of The Spanish Order of The Civil Merit (Cruz de Official) by His Majesty King Felipe VI, King of Spain.
We are honored to announce that Prof. Dr. Seza Özen who is the member of Honorary Advisory Board of JBACHS has already won the Aziz Sancar Science Award of TUSEB.
We are happy to announce that The Journal of Basic and Clinical Health Sciences (JBACHS) is indexed by the Emerging Sources Citation Index since November 2017, and indexed by the Ulakbim-TR since 2017.
Journal of Basic and Clinical Health Sciences 2020 , Vol 4 , Issue 2
How Much do we Know About the Findings of 22q11.2 Deletion Syndrome?: A Single-Centre Study with 11-Year Follow-Up
Duygu Onur Cura1,Elçin Bora2,Özlem Giray Bozkaya3,Mustafa Kır4,Derya Erçal3,Tufan Çankaya2
1Dokuz Eylul University, Institute of Health Sciences, Department of Molecular Medicine, Izmir, Turkey
2Dokuz Eylul University, Faculty of Medicine, Department of Medical Genetics, Izmir, Turkey
3Dokuz Eylul University, Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, Izmir, Turkey
4Dokuz Eylul University, Faculty of Medicine, Department of Pediatrics, Division of Pediatric Cardiology, Izmir, Turkey
DOI : 10.30621/jbachs.2020.987 Purpose: 22q11.2 deletion syndrome is a contiguous gene deletion syndrome with multisystem involvement characterized by cardiac defects, immunodeficiency and hypocalcemia. Variable expression and a wide range of clinical findings make it difficult for clinicians to decide on the test.

Methods: Evaluation was made of the clinical findings of patients who underwent the FISH test for 22q11.2 deletion syndrome between 2006 and 2017.

Results: Of the 180 patients, 152 (84.45%) had cardiac defects, 5 (2.78%) had immune defects, 132 (73.4%) had dysmorphic findings and 52 (28.89%) had growth / developmental delay. Ten patients had 22q11.2 deletion syndrome (5.56%) and 9 of these had cardiac defects. Hypocalcemia was present in 5 (50%) patients and only one patient had immunodeficiency.

Conclusion: In this study, the accuracy of the indication was evaluated retrospectively based on the clinical findings of patients who underwent FISH analysis for 22q11.2 deletion syndrome. In cases with congenital cardiac defects, although 22q11.2 deletion syndrome is one of the possible diagnoses of the clinician, a detailed examination of the defect type before testing will increase the diagnosis rate. It should be kept in mind that this syndrome should be considered in the presence of major findings such as immunodeficiency or hypocalcemia. Keywords : 22q11.2 deletion syndrome, congenital cardiac defect, immunodeficiency, hypocalcemia