Clinical and genomic profiling of a patient with a de novo ring chromosome 18: a case report highlighting autoimmune and neurological implications
Abstract Ring chromosome 18 (r(18)) is a rare chromosomal abnormality characterized by the circular rearrangement of chromosome 18, which presents significant challenges in genotype-phenotype correlations due to variability in deletions across the 18p and 18q arms. We report the case of a pediatric...
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| Format: | Article |
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BMC
2024-12-01
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| Series: | Molecular Cytogenetics |
| Online Access: | https://doi.org/10.1186/s13039-024-00700-5 |
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| author | Annalaura Montanari Paola Caforio Annalisa Paparella Paola Casieri Maria Cristina Nuzzi Maria Fatima Antonucci Claudia Rita Catacchio Marilina Tampoia Mattia Gentile Roberta Bucci Valerio Cecinati Angelo Cellamare Francesca Antonacci |
| author_facet | Annalaura Montanari Paola Caforio Annalisa Paparella Paola Casieri Maria Cristina Nuzzi Maria Fatima Antonucci Claudia Rita Catacchio Marilina Tampoia Mattia Gentile Roberta Bucci Valerio Cecinati Angelo Cellamare Francesca Antonacci |
| author_sort | Annalaura Montanari |
| collection | DOAJ |
| description | Abstract Ring chromosome 18 (r(18)) is a rare chromosomal abnormality characterized by the circular rearrangement of chromosome 18, which presents significant challenges in genotype-phenotype correlations due to variability in deletions across the 18p and 18q arms. We report the case of a pediatric patient with a de novo ring chromosome 18, diagnosed by karyotype analysis and confirmed by high-resolution SNP arrays. The patient exhibited pathogenic copy number variants (CNVs) in the 18p11.32p11.22 and 18q23 regions, involving 36 and 10 OMIM genes, respectively. Clinically, the patient presented with hypothyroidism secondary to autoimmune thyroiditis, autoimmune hepatitis type II, and genetic predisposition to celiac disease and insulin-dependent diabetes mellitus (IDDM) along with notable dysmorphic features. The 18q microdeletion encompasses the MBP gene, involved in the development and functionality of the nervous system, as supported by hypotonia and gliosis shown by the MRI. This case highlights the complex interplay between genetic imbalances on chromosome 18 and autoimmune phenotypes, emphasizing the need for ongoing research to elucidate underlying mechanisms and optimize clinical management for individuals with r(18). |
| format | Article |
| id | doaj-art-e7908277ef604c4f86f327ffcdc1e7a4 |
| institution | OA Journals |
| issn | 1755-8166 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Cytogenetics |
| spelling | doaj-art-e7908277ef604c4f86f327ffcdc1e7a42025-08-20T02:20:41ZengBMCMolecular Cytogenetics1755-81662024-12-011711710.1186/s13039-024-00700-5Clinical and genomic profiling of a patient with a de novo ring chromosome 18: a case report highlighting autoimmune and neurological implicationsAnnalaura Montanari0Paola Caforio1Annalisa Paparella2Paola Casieri3Maria Cristina Nuzzi4Maria Fatima Antonucci5Claudia Rita Catacchio6Marilina Tampoia7Mattia Gentile8Roberta Bucci9Valerio Cecinati10Angelo Cellamare11Francesca Antonacci12Dipartimento di Bioscienze, Biotecnologie e Ambiente, Università degli Studi di Bari “Aldo Moro”U.O.C Patologia Clinica - Sezione di Genetica Medica, Ospedale SS. Annunziata Taranto - ASL TarantoDipartimento di Bioscienze, Biotecnologie e Ambiente, Università degli Studi di Bari “Aldo Moro”U.O.C Patologia Clinica - Sezione di Genetica Medica, Ospedale SS. Annunziata Taranto - ASL TarantoU.O.C Patologia Clinica - Sezione di Genetica Medica, Ospedale SS. Annunziata Taranto - ASL TarantoU.O.C Patologia Clinica - Sezione di Genetica Medica, Ospedale SS. Annunziata Taranto - ASL TarantoDipartimento di Bioscienze, Biotecnologie e Ambiente, Università degli Studi di Bari “Aldo Moro”U.O.C Patologia Clinica - Sezione di Genetica Medica, Ospedale SS. Annunziata Taranto - ASL TarantoU.O.C. Laboratorio di Genetica Medica, PO Di Venere - ASL BariU.O.C. Laboratorio di Genetica Medica, PO Di Venere - ASL BariU.O.C Patologia Clinica - Sezione di Genetica Medica, Ospedale SS. Annunziata Taranto - ASL TarantoU.O.C Patologia Clinica - Sezione di Genetica Medica, Ospedale SS. Annunziata Taranto - ASL TarantoDipartimento di Bioscienze, Biotecnologie e Ambiente, Università degli Studi di Bari “Aldo Moro”Abstract Ring chromosome 18 (r(18)) is a rare chromosomal abnormality characterized by the circular rearrangement of chromosome 18, which presents significant challenges in genotype-phenotype correlations due to variability in deletions across the 18p and 18q arms. We report the case of a pediatric patient with a de novo ring chromosome 18, diagnosed by karyotype analysis and confirmed by high-resolution SNP arrays. The patient exhibited pathogenic copy number variants (CNVs) in the 18p11.32p11.22 and 18q23 regions, involving 36 and 10 OMIM genes, respectively. Clinically, the patient presented with hypothyroidism secondary to autoimmune thyroiditis, autoimmune hepatitis type II, and genetic predisposition to celiac disease and insulin-dependent diabetes mellitus (IDDM) along with notable dysmorphic features. The 18q microdeletion encompasses the MBP gene, involved in the development and functionality of the nervous system, as supported by hypotonia and gliosis shown by the MRI. This case highlights the complex interplay between genetic imbalances on chromosome 18 and autoimmune phenotypes, emphasizing the need for ongoing research to elucidate underlying mechanisms and optimize clinical management for individuals with r(18).https://doi.org/10.1186/s13039-024-00700-5 |
| spellingShingle | Annalaura Montanari Paola Caforio Annalisa Paparella Paola Casieri Maria Cristina Nuzzi Maria Fatima Antonucci Claudia Rita Catacchio Marilina Tampoia Mattia Gentile Roberta Bucci Valerio Cecinati Angelo Cellamare Francesca Antonacci Clinical and genomic profiling of a patient with a de novo ring chromosome 18: a case report highlighting autoimmune and neurological implications Molecular Cytogenetics |
| title | Clinical and genomic profiling of a patient with a de novo ring chromosome 18: a case report highlighting autoimmune and neurological implications |
| title_full | Clinical and genomic profiling of a patient with a de novo ring chromosome 18: a case report highlighting autoimmune and neurological implications |
| title_fullStr | Clinical and genomic profiling of a patient with a de novo ring chromosome 18: a case report highlighting autoimmune and neurological implications |
| title_full_unstemmed | Clinical and genomic profiling of a patient with a de novo ring chromosome 18: a case report highlighting autoimmune and neurological implications |
| title_short | Clinical and genomic profiling of a patient with a de novo ring chromosome 18: a case report highlighting autoimmune and neurological implications |
| title_sort | clinical and genomic profiling of a patient with a de novo ring chromosome 18 a case report highlighting autoimmune and neurological implications |
| url | https://doi.org/10.1186/s13039-024-00700-5 |
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