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Non-balanced translocation between the short arms of chromosomes 8 and 6 associated with type 1 diabetes mellitus
SUMMARY: We describe a rare case of a girl with an initial diagnostic hypothesis of chromosome 8 trisomy based on clinical findings and karyotyping, which identified a structural change in the short arm of chromosome 8 (46,XX,add(8)(p23)). At the age of 7, she developed type 1 diabetes mellitus and...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Bioscientifica Ltd
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8859954/ https://www.ncbi.nlm.nih.gov/pubmed/35140187 http://dx.doi.org/10.1530/EDM-20-0197 |
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author | Netto, Vitor Scalone Bellincanta, Gabriel Neto, Guido de Paula Colares de Araujo Evangelista, Nara Michelle Figueiredo, Carolina Costa Salmona, Patricia Tonetto-Fernandes, Vânia de Fátima |
author_facet | Netto, Vitor Scalone Bellincanta, Gabriel Neto, Guido de Paula Colares de Araujo Evangelista, Nara Michelle Figueiredo, Carolina Costa Salmona, Patricia Tonetto-Fernandes, Vânia de Fátima |
author_sort | Netto, Vitor Scalone |
collection | PubMed |
description | SUMMARY: We describe a rare case of a girl with an initial diagnostic hypothesis of chromosome 8 trisomy based on clinical findings and karyotyping, which identified a structural change in the short arm of chromosome 8 (46,XX,add(8)(p23)). At the age of 7, she developed type 1 diabetes mellitus and started insulin therapy with multiple daily doses, and then she started to use a continuous insulin infusion system (pump) at 10 years of age. At the age of 12, she underwent a molecular study that identified an unbalanced translocation between the short arms of chromosomes 6 and 8 – 46,XX,add(8)(p23).ish der(8)t(6;8)(GS-196I5+;RP-11338B22−). LEARNING POINTS: Patients with an unbalanced translocation between the short arms of chromosomes 6 and 8 – 46,XX,add(8)(p23).ish der(8)t(6;8)(GS-196I5+;RP-11338B22-) may present syndromic features suggestive of chromosome 8 trisomy. Main characteristics are a prominent forehead, ocular and breast hypertelorism, ocular, external ear and palate abnormalities, a short neck, heart defects, and developmental delay. Patients with 46,XX,add(8)(p23).ish der(8)t(6;8)(GS-196I5+;RP-11338B22-) may present autoimmune type 1 diabetes mellitus. Karyotyping is an essential tool for the diagnosis of chromosomal changes, but it has some limitations. Multiplex ligation-dependent probe amplification, array-single nucleotide polymorphism and fluorescence in situ hybridization can help diagnose genetic syndromes in patients with atypical evolution. |
format | Online Article Text |
id | pubmed-8859954 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Bioscientifica Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-88599542022-02-23 Non-balanced translocation between the short arms of chromosomes 8 and 6 associated with type 1 diabetes mellitus Netto, Vitor Scalone Bellincanta, Gabriel Neto, Guido de Paula Colares de Araujo Evangelista, Nara Michelle Figueiredo, Carolina Costa Salmona, Patricia Tonetto-Fernandes, Vânia de Fátima Endocrinol Diabetes Metab Case Rep New Disease or Syndrome: Presentations/Diagnosis/Management SUMMARY: We describe a rare case of a girl with an initial diagnostic hypothesis of chromosome 8 trisomy based on clinical findings and karyotyping, which identified a structural change in the short arm of chromosome 8 (46,XX,add(8)(p23)). At the age of 7, she developed type 1 diabetes mellitus and started insulin therapy with multiple daily doses, and then she started to use a continuous insulin infusion system (pump) at 10 years of age. At the age of 12, she underwent a molecular study that identified an unbalanced translocation between the short arms of chromosomes 6 and 8 – 46,XX,add(8)(p23).ish der(8)t(6;8)(GS-196I5+;RP-11338B22−). LEARNING POINTS: Patients with an unbalanced translocation between the short arms of chromosomes 6 and 8 – 46,XX,add(8)(p23).ish der(8)t(6;8)(GS-196I5+;RP-11338B22-) may present syndromic features suggestive of chromosome 8 trisomy. Main characteristics are a prominent forehead, ocular and breast hypertelorism, ocular, external ear and palate abnormalities, a short neck, heart defects, and developmental delay. Patients with 46,XX,add(8)(p23).ish der(8)t(6;8)(GS-196I5+;RP-11338B22-) may present autoimmune type 1 diabetes mellitus. Karyotyping is an essential tool for the diagnosis of chromosomal changes, but it has some limitations. Multiplex ligation-dependent probe amplification, array-single nucleotide polymorphism and fluorescence in situ hybridization can help diagnose genetic syndromes in patients with atypical evolution. Bioscientifica Ltd 2021-10-25 /pmc/articles/PMC8859954/ /pubmed/35140187 http://dx.doi.org/10.1530/EDM-20-0197 Text en © The authors https://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. (https://creativecommons.org/licenses/by-nc-nd/4.0/) . |
spellingShingle | New Disease or Syndrome: Presentations/Diagnosis/Management Netto, Vitor Scalone Bellincanta, Gabriel Neto, Guido de Paula Colares de Araujo Evangelista, Nara Michelle Figueiredo, Carolina Costa Salmona, Patricia Tonetto-Fernandes, Vânia de Fátima Non-balanced translocation between the short arms of chromosomes 8 and 6 associated with type 1 diabetes mellitus |
title | Non-balanced translocation between the short arms of chromosomes 8 and 6 associated with type 1 diabetes mellitus |
title_full | Non-balanced translocation between the short arms of chromosomes 8 and 6 associated with type 1 diabetes mellitus |
title_fullStr | Non-balanced translocation between the short arms of chromosomes 8 and 6 associated with type 1 diabetes mellitus |
title_full_unstemmed | Non-balanced translocation between the short arms of chromosomes 8 and 6 associated with type 1 diabetes mellitus |
title_short | Non-balanced translocation between the short arms of chromosomes 8 and 6 associated with type 1 diabetes mellitus |
title_sort | non-balanced translocation between the short arms of chromosomes 8 and 6 associated with type 1 diabetes mellitus |
topic | New Disease or Syndrome: Presentations/Diagnosis/Management |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8859954/ https://www.ncbi.nlm.nih.gov/pubmed/35140187 http://dx.doi.org/10.1530/EDM-20-0197 |
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