Evaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel Findings

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...

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Bibliographic Details
Published inThe journal of pediatric research Vol. 7; no. 4; pp. 267 - 272
Main Authors Isik, Esra, Akgun, Bilcag, Atik, Tahir, Ozkinay, Ferda, Qogulu, Ozgur
Format Journal Article
LanguageEnglish
Published Galenos Yayinevi Tic. Ltd 01.12.2020
Ege Üniversitesi Yayınları
Galenos Yayinevi
Subjects
chromosome 18
Chromosomes
deletion
Diagnosis
DNA microarrays
duplication
Genetic disorders
Genetic research
Genetic testing
Health screening
isochromosome
Medical records
structural anomalies
Tıp
İzmir
isochromosome
deletion
Chromosome 18
structural anomalies
duplication
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Summary: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. Keywords: Chromosome 18, structural anomalies, deletion, duplication, isochromosome
ISSN:2147-9445
2587-2478
2147-9445
DOI:10.4274/jpr.galenos.2019.38278