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 wh...

Full description

Bibliographic Details
Main Authors: Esra Işık, Bilcağ Akgün, Tahir Atik, Ferda Özkınay, Özgür Çoğulu
Format: Article
Language:English
Published: Galenos Yayinevi 2020-12-01
Series:Journal of Pediatric Research
Subjects:
Online Access: http://jpedres.org/archives/archive-detail/article-preview/evaluation-of-six-patients-with-chromosome-18-stru/39792
id doaj-89f845340db14691a5a5c74041cea09a
record_format Article
spelling doaj-89f845340db14691a5a5c74041cea09a2020-11-25T02:54:30ZengGalenos YayineviJournal of Pediatric Research2147-94452587-24782020-12-017426727210.4274/jpr.galenos.2019.3827813049054Evaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel FindingsEsra Işık0Bilcağ Akgün1Tahir Atik2Ferda Özkınay3Özgür Çoğulu4 Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Turkey Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Turkey Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Turkey Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Turkey Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Turkey 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. http://jpedres.org/archives/archive-detail/article-preview/evaluation-of-six-patients-with-chromosome-18-stru/39792 chromosome 18structural anomaliesdeletionduplicationisochromosome
collection DOAJ
language English
format Article
sources DOAJ
author Esra Işık
Bilcağ Akgün
Tahir Atik
Ferda Özkınay
Özgür Çoğulu
spellingShingle Esra Işık
Bilcağ Akgün
Tahir Atik
Ferda Özkınay
Özgür Çoğulu
Evaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel Findings
Journal of Pediatric Research
chromosome 18
structural anomalies
deletion
duplication
isochromosome
author_facet Esra Işık
Bilcağ Akgün
Tahir Atik
Ferda Özkınay
Özgür Çoğulu
author_sort Esra Işık
title Evaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel Findings
title_short Evaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel Findings
title_full Evaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel Findings
title_fullStr Evaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel Findings
title_full_unstemmed Evaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel Findings
title_sort evaluation of six patients with chromosome 18 structural anomalies and novel findings
publisher Galenos Yayinevi
series Journal of Pediatric Research
issn 2147-9445
2587-2478
publishDate 2020-12-01
description 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.
topic chromosome 18
structural anomalies
deletion
duplication
isochromosome
url http://jpedres.org/archives/archive-detail/article-preview/evaluation-of-six-patients-with-chromosome-18-stru/39792
work_keys_str_mv AT esraisık evaluationofsixpatientswithchromosome18structuralanomaliesandnovelfindings
AT bilcagakgun evaluationofsixpatientswithchromosome18structuralanomaliesandnovelfindings
AT tahiratik evaluationofsixpatientswithchromosome18structuralanomaliesandnovelfindings
AT ferdaozkınay evaluationofsixpatientswithchromosome18structuralanomaliesandnovelfindings
AT ozgurcogulu evaluationofsixpatientswithchromosome18structuralanomaliesandnovelfindings
_version_ 1724720637989093376