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Exome sequencing identifies a cryptic chromosome translocation in a family decades after clinical diagnosis of Cornelia de Lange: Case report
Clinical genetic evaluations are defined by the knowledge and technology available at the time they occur. In the modern era, microarray and exome sequencing are first line tests for clinical geneticists; however, beginning in the late 1970s and continuing until the turn of the past century, a stand...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9723470/ https://www.ncbi.nlm.nih.gov/pubmed/36483867 http://dx.doi.org/10.1002/ccr3.6706 |
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author | Sekhon, Morgan Brown, Stephen |
author_facet | Sekhon, Morgan Brown, Stephen |
author_sort | Sekhon, Morgan |
collection | PubMed |
description | Clinical genetic evaluations are defined by the knowledge and technology available at the time they occur. In the modern era, microarray and exome sequencing are first line tests for clinical geneticists; however, beginning in the late 1970s and continuing until the turn of the past century, a standard genetic evaluation consisted, in many cases, of an examination by a dysmorphologist as well as a conventional karyotype. In general, once a genetic diagnosis is established, it does not get revisited as more advanced methods become available. Clearly, there will be instances in which new technology can modify or change a prior diagnosis. We present a family in which the recent birth of a baby resulted in the establishment of a cytogenetic diagnosis of a different family member whose initial evaluation and clinical diagnosis had occurred three decades earlier. The new genomic findings have profound implications for other family members, and in addition provided the family with a sense of closure. |
format | Online Article Text |
id | pubmed-9723470 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-97234702022-12-07 Exome sequencing identifies a cryptic chromosome translocation in a family decades after clinical diagnosis of Cornelia de Lange: Case report Sekhon, Morgan Brown, Stephen Clin Case Rep Case Report Clinical genetic evaluations are defined by the knowledge and technology available at the time they occur. In the modern era, microarray and exome sequencing are first line tests for clinical geneticists; however, beginning in the late 1970s and continuing until the turn of the past century, a standard genetic evaluation consisted, in many cases, of an examination by a dysmorphologist as well as a conventional karyotype. In general, once a genetic diagnosis is established, it does not get revisited as more advanced methods become available. Clearly, there will be instances in which new technology can modify or change a prior diagnosis. We present a family in which the recent birth of a baby resulted in the establishment of a cytogenetic diagnosis of a different family member whose initial evaluation and clinical diagnosis had occurred three decades earlier. The new genomic findings have profound implications for other family members, and in addition provided the family with a sense of closure. John Wiley and Sons Inc. 2022-12-05 /pmc/articles/PMC9723470/ /pubmed/36483867 http://dx.doi.org/10.1002/ccr3.6706 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Case Report Sekhon, Morgan Brown, Stephen Exome sequencing identifies a cryptic chromosome translocation in a family decades after clinical diagnosis of Cornelia de Lange: Case report |
title | Exome sequencing identifies a cryptic chromosome translocation in a family decades after clinical diagnosis of Cornelia de Lange: Case report |
title_full | Exome sequencing identifies a cryptic chromosome translocation in a family decades after clinical diagnosis of Cornelia de Lange: Case report |
title_fullStr | Exome sequencing identifies a cryptic chromosome translocation in a family decades after clinical diagnosis of Cornelia de Lange: Case report |
title_full_unstemmed | Exome sequencing identifies a cryptic chromosome translocation in a family decades after clinical diagnosis of Cornelia de Lange: Case report |
title_short | Exome sequencing identifies a cryptic chromosome translocation in a family decades after clinical diagnosis of Cornelia de Lange: Case report |
title_sort | exome sequencing identifies a cryptic chromosome translocation in a family decades after clinical diagnosis of cornelia de lange: case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9723470/ https://www.ncbi.nlm.nih.gov/pubmed/36483867 http://dx.doi.org/10.1002/ccr3.6706 |
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