Evaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel Findings
Journal Title: The Journal of Pediatric Research - Year 2020, Vol 7, Issue 4
Abstract
Aim: Structural chromosome 18 anomalies are characterized by multiple congenital anomalies and intellectual disability. In this study, 6 cases with structural anomalies of chromosome 18 diagnosed by using conventional and molecular cytogenetic analyses are presented. Materials and Methods: Six cases who were carrying structural chromosome 18 abnormalities were enrolled in the study. Developmental milestones, growth parameters and dysmorphologic features were evaluated by experienced clinical geneticists. Laboratory analysis including genetic tests, imaging studies, and eye and hearing examinations were obtained from the medical records, retrospectively. Results: All cases had karyotype analysis, 2 cases had fluorescence in situ hybridization analysis and one case had microarray analysis, which were performed by using peripheral blood. A total of 6 cases in which del (18p) in one case, del (18q) in 4 cases and i (18q) in one case were evaluated. Conclusion: Although a wide range of phenotypic findings, depending on the affected chromosomal region and size, can be seen in patients who carry structural chromosome 18 anomalies, some additional novel features are presented in our series which will contribute to the literature.
Authors and Affiliations
Esra Işık, Bilcağ Akgün, Tahir Atik, Ferda Özkınay, Özgür Çoğulu
Keywords
Related Articles
- EP ID EP685506
- DOI 10.4274/jpr.galenos.2019.38278
- Views 165
- Downloads 0
Open Globe Injury in Children
Aim: To evaluate retrospectively the epidemiologic data and outcomes of pediatric open globe injury (OGI). Materials and Methods: The medical records of all pediatric cases (<16 years old) diagnosed with OGI in İzmir Ka...
Occurrence of Unexpected Adverse Reactions to Vaccines in Children with Mastocytosis
Aim: Children with cutaneous or systemic mastocytosis may experience severe manifestations of mast cell mediator release including anaphylaxis. The perceived risk for adverse vaccine reactions creates concern among paren...
Plastic Bronchitis Following Fontan Procedure: A Case Report
Fibrinous bronchitis, also known as plastic bronchitis or pseudomembranous bronchitis, usually manifests clinically with non-productive cough and dyspnea. Prior to the expectoration of plaque formations, patients have a...
The Use of Artificial Neural Networks for Differential Diagnosis between Vesicoureteral Reflux and Urinary Tract Infection in Children
Aim: Vesicoureteral reflux (VUR) and urinary tract infection (UTI) are common problems in children. Our goal is to use different models for the clinical decision of differential diagnosis of VUR and UTI in children. Mat...
A Novel Mutation in Fanconi Bickel Syndrome Diagnosed in the Neonatal Period
Fanconi Bickel Syndrome (FBS), also known as glycogen storage disease Type XI, is a rare autosomal recessive disorder. This syndrome has many different identified mutations and it is rarely diagnosed during the neonatal...