Cytogenetic  Findings  in  Patients  With  Intellectual  Disability/Mental  Retardation and Dysmorphic Features in Eastern Croatia

Višnja Tomac*; Silvija Pušeljić; Jasenka Wagner; Martina Kos; Nikolina Arambašić; Mia Damašek

doi:10.26332/seemedj.v4i1.129

Višnja Tomac* Pediatric Clinic, Clinical Hospital Centre Osijek, Osijek; Department of pediatrics, Faculty of Medicine, J. J. Strossmayer University in Osijek
Silvija Pušeljić Pediatric Clinic, Clinical Hospital Centre Osijek, Osijek; Department of pediatrics, Faculty of Medicine, J. J. Strossmayer University in Osijek
Jasenka Wagner Medical genetics laboratory, Department of medical biology and genetics, Faculty of Medicine, J. J. Strossmayer University in Osijek
Martina Kos Pediatric Clinic, Clinical Hospital Centre Osijek, Osijek; Department of pediatrics, Faculty of Medicine, J. J. Strossmayer University in Osijek
Nikolina Arambašić Pediatric Clinic, Clinical Hospital Centre Osijek, Osijek; Department of pediatrics, Faculty of Medicine, J. J. Strossmayer University in Osijek
Mia Damašek Pediatric Clinic, Clinical Hospital Centre Osijek, Osijek

DOI: https://doi.org/10.26332/seemedj.v4i1.129

Abstract

Introduction: Numerical and structural chromosomal aberrations are some of the most common causes of intellectual disability/mental retardation (ID/MR), especially syndromic, and they represent about 10% of ID/MR that can be detected using cytogenetic methods.

Aim: The aim of this study is to show the results of cytogenetic findings in 340 patients with ID/MR and dysmorphia and/or multiple malformations in Eastern Croatia, examined at the Paediatric Clinic of the Clinical Hospital Centre Osijek and the Medical Genetics Laboratory at the Faculty of Medicine Osijek.

Methods: Cytogenetic analysis of 340 samples from patients with ID/MR and/or dysmorphia was conducted using G-banding with Trypsin/Giemsa (GTG) and fluorescent in situ hybridization (FISH).

Results: A total of 340 patients with ID/MR with dysmorphia and/or multiple malformations were referred for cytogenetic evaluation. The age range of patients was 0-18 years. The analysis included 221 boys (65%) and 119 girls (35%). A chromosomal aberration was found in 24.5% of patients. Numerical aberrations (aneuploidy) were seen in 64 patients (18.8%). The most common type of autosomal aneuploidy was trisomy 21, found in 14.7% of patients. Sex chromosome aneuploidy was detected in 2.6% of patients. Structural abnormalities were found in 6.5% of patients.

Conclusion: The results of our study show that cytogenetic analysis in patients with ID/MR should nowadays be applied when aneuploidies are suspected, since the first-line genetic test for patients with ID/MR, especially non-syndromic, is the Array Comparative Genomic Hybridization (aCGH).

(Tomac* V, Pušeljić S, Wagner J, Kos M, Arambašić N, Damašek M. Cytogenetic Findings in Patients With Intellectual Disability/Mental Retardation and Dysmorphic Features in Eastern Croatia. SEEMEDJ 2020; 4(1); 87-95)