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22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients
Background: 22q11.2 deletion syndrome (22q11.2DS) is a microdeletion syndrome exhibiting significant clinical phenotype variability. This study aimed to investigate the clinical features, immune profiles, and cognitive abilities of 22q11.2DS patients receiving treatment at MacKay Memorial Hospital i...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Ivyspring International Publisher
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10542185/ https://www.ncbi.nlm.nih.gov/pubmed/37790845 http://dx.doi.org/10.7150/ijms.86773 |
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author | Lee, Chung-Lin Lin, Shan-Miao Chen, Ming-Ren Chuang, Chih-Kuang Chiu, Huei-Ching Tu, Yuan-Rong Lo, Yun-Ting Chang, Ya-Hui Lin, Hsiang-Yu Lin, Shuan-Pei |
author_facet | Lee, Chung-Lin Lin, Shan-Miao Chen, Ming-Ren Chuang, Chih-Kuang Chiu, Huei-Ching Tu, Yuan-Rong Lo, Yun-Ting Chang, Ya-Hui Lin, Hsiang-Yu Lin, Shuan-Pei |
author_sort | Lee, Chung-Lin |
collection | PubMed |
description | Background: 22q11.2 deletion syndrome (22q11.2DS) is a microdeletion syndrome exhibiting significant clinical phenotype variability. This study aimed to investigate the clinical features, immune profiles, and cognitive abilities of 22q11.2DS patients receiving treatment at MacKay Memorial Hospital in Taipei, Taiwan. Methods: This is a cross-sectional analysis between January 2001 and December 2022. We recruited 27 patients with 22q11.2DS using fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (aCGH). Our evaluation included patient history, physical examination, laboratory analysis, and cardiac and cognitive assessment. Results: We included 27 patients with 22q11.2DS, 7 (25.9%) of whom were female. The median age of the patients was 17.9 yr. Ninety-three percent of the patients exhibited the characteristic facial features associated with the syndrome. A family history of 22q11.2DS was found in 11.1% of the patients. Furthermore, 74.1% of the patients had a congenital heart defect, the most common of which was tetralogy of Fallot (40.7%). Hypocalcemia was observed in 40.7% of the patients. A low T-cell count was observed in 66.7% of the patients, whereas 18.5% had low immunoglobulin levels. Cognitive assessments revealed that four out of six evaluated patients (66.7%) had an intellectual disability, as evidenced by intellectual quotient scores less than 70. The remaining two patients (33.3%) had a borderline intellectual function. Conclusion: Tetralogy of Fallot, hypocalcemia, immunologic defects, and cognitive impairment were common among our patients. To address the potential multisystem involvement, we recommend that all affected individuals undergo a comprehensive evaluation by a multidisciplinary care team. |
format | Online Article Text |
id | pubmed-10542185 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Ivyspring International Publisher |
record_format | MEDLINE/PubMed |
spelling | pubmed-105421852023-10-03 22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients Lee, Chung-Lin Lin, Shan-Miao Chen, Ming-Ren Chuang, Chih-Kuang Chiu, Huei-Ching Tu, Yuan-Rong Lo, Yun-Ting Chang, Ya-Hui Lin, Hsiang-Yu Lin, Shuan-Pei Int J Med Sci Research Paper Background: 22q11.2 deletion syndrome (22q11.2DS) is a microdeletion syndrome exhibiting significant clinical phenotype variability. This study aimed to investigate the clinical features, immune profiles, and cognitive abilities of 22q11.2DS patients receiving treatment at MacKay Memorial Hospital in Taipei, Taiwan. Methods: This is a cross-sectional analysis between January 2001 and December 2022. We recruited 27 patients with 22q11.2DS using fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (aCGH). Our evaluation included patient history, physical examination, laboratory analysis, and cardiac and cognitive assessment. Results: We included 27 patients with 22q11.2DS, 7 (25.9%) of whom were female. The median age of the patients was 17.9 yr. Ninety-three percent of the patients exhibited the characteristic facial features associated with the syndrome. A family history of 22q11.2DS was found in 11.1% of the patients. Furthermore, 74.1% of the patients had a congenital heart defect, the most common of which was tetralogy of Fallot (40.7%). Hypocalcemia was observed in 40.7% of the patients. A low T-cell count was observed in 66.7% of the patients, whereas 18.5% had low immunoglobulin levels. Cognitive assessments revealed that four out of six evaluated patients (66.7%) had an intellectual disability, as evidenced by intellectual quotient scores less than 70. The remaining two patients (33.3%) had a borderline intellectual function. Conclusion: Tetralogy of Fallot, hypocalcemia, immunologic defects, and cognitive impairment were common among our patients. To address the potential multisystem involvement, we recommend that all affected individuals undergo a comprehensive evaluation by a multidisciplinary care team. Ivyspring International Publisher 2023-09-04 /pmc/articles/PMC10542185/ /pubmed/37790845 http://dx.doi.org/10.7150/ijms.86773 Text en © The author(s) https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/). See http://ivyspring.com/terms for full terms and conditions. |
spellingShingle | Research Paper Lee, Chung-Lin Lin, Shan-Miao Chen, Ming-Ren Chuang, Chih-Kuang Chiu, Huei-Ching Tu, Yuan-Rong Lo, Yun-Ting Chang, Ya-Hui Lin, Hsiang-Yu Lin, Shuan-Pei 22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients |
title | 22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients |
title_full | 22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients |
title_fullStr | 22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients |
title_full_unstemmed | 22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients |
title_short | 22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients |
title_sort | 22q11.2 deletion syndrome in taiwan: clinical presentation and immune system status of patients |
topic | Research Paper |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10542185/ https://www.ncbi.nlm.nih.gov/pubmed/37790845 http://dx.doi.org/10.7150/ijms.86773 |
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