Publications
Cytogenetic Study of Autism: A Systematic Review
Aug 17, 2025Journal Razi Medical Journal
Publisher Alrazi University, Libya
DOI https://doi.org/10.69667/rmj.25207
Issue 3
Volume 1
Study of autism via a methodical search strategy predominantly through the Scopus database. The search employed terms including "autism," "autism spectrum disorder," "ASD," alongside "cytogenetics," "chromosome," "chromosomal abnormality," "copy number variation," "CNV," and "aneuploidy." The inquiry was confined to English, peer-reviewed publications without temporal limitations. The inclusion criteria emphasized original research, reviews, and case reports that elucidate cytogenetic or chromosomal investigations in persons with autism, encompassing classic karyotyping, aCGH, and SNP arrays, accompanied by explicit descriptions of findings and diagnoses. The exclusion criteria eliminated research focused on single-gene mutations lacking a cytogenetic component, non-English publications, editorials, and studies in which chromosomal mosaicism was a secondary observation. The findings indicated a vigorous scientific production in autism research, with annual publications continuously over 300 from 2021 to 2023; however, a decrease was observed in 2024 and 2025. The United States prominently led in publications, with over 600 documents, followed by Italy, the United Kingdom, China, and Canada. Prominent authors such as J.D. Buxbaum and A. Kolezvon significantly influenced research productivity. The review methodologically emphasized the growing integration of advanced genetic testing, such as Chromosomal Microarray Analysis (CMA), Whole Exome Sequencing (WES), and Whole Genome Sequencing (WGS), in conjunction with behavioral evaluations. Chromosomal Microarray Analysis (CMA) has become the recommended initial genetic assessment, detecting harmful copy number variations (CNVs) in 10-20% of autism spectrum disorder (ASD) cases, with elevated rates among individuals with intellectual disabilities. WES functioned as an ancillary instrument, providing diagnoses in 15-30% of ASD cohorts by identifying de novo pathogenic single-nucleotide variants (SNVs) and copy number variations (CNVs). Whole Genome Sequencing (WGS), albeit costly, provided the most thorough genomic perspective, detecting complex structural variants and copy number variations (CNVs) overlooked by alternative methods.
Molecular Cytogenetic Study of Chronic Lymphocytic Leukemia Patients Diagnosed in Erbil City Using Fluorescence in Situ Hybridization (FISH) Technique
May 30, 2025Journal Razi Medical Journal
Publisher Alrazi University, Libya
DOI https://doi.org/10.69667/rmj.25207
Issue 2
Volume 1
Abnormalities in chromosomes were assessed using cytogenetic and molecular cytogenetic analyses utilizing the FISH technique on blood samples from patients diagnosed with chronic lymphocytic leukemia. The study included the selection of 50 patients (32 males and 18 females) for both the early diagnosis phase (before therapy) and the treatment phase, examining various factors such as sex, age, and occupation. The results revealed that most patients in the over-70 age demographic are male. The majority lacked a familial history of this condition. Patients with chronic lymphocytic leukemia exhibited a higher prevalence of the chromosomal defect deletion (13) (q14) at 43.8%, followed by deletion (11) (q23) at 18.8%. A trisomy 12 alteration was observed at 12.5%, along with a loss on chromosome 17, also present at 12.5%. Tetraploidy occurred seldom (6.2%), notwithstanding the existence of chromosomal defects, specifically deletions (6) at q25-q27. The current study indicates that structural chromosomal modifications were more prevalent than numerical changes regarding chromosomal aberrations, with both types associated with chronic lymphocytic leukemia.