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Clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism
There have been dramatic improvements in our ability to more accurately diagnose the underlying genetic causes of developmental delay/intellectual disability; however, there is less known about the treatment trajectory and whether or not patient management and outcomes have changed due to the inform...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4271515/ https://www.ncbi.nlm.nih.gov/pubmed/25530805 http://dx.doi.org/10.1186/s13039-014-0093-4 |
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author | Dwivedi, Alka Chaubey nee Lyons, Michael J Kwiatkowski, Kat Bartel, Frank O Friez, Michael J Holden, Kenton R Fung, Eric T DuPont, Barbara R |
author_facet | Dwivedi, Alka Chaubey nee Lyons, Michael J Kwiatkowski, Kat Bartel, Frank O Friez, Michael J Holden, Kenton R Fung, Eric T DuPont, Barbara R |
author_sort | Dwivedi, Alka Chaubey nee |
collection | PubMed |
description | There have been dramatic improvements in our ability to more accurately diagnose the underlying genetic causes of developmental delay/intellectual disability; however, there is less known about the treatment trajectory and whether or not patient management and outcomes have changed due to the information gained from genetic testing. Here we report a case study of a 20-month-old male first referred to the genetics clinic in 2008 for interhemispheric cysts, agenesis of the corpus callosum, left cortical dysplasia, and developmental delay of unknown etiology. The diagnostic work-up for this patient included chromosomal microarray which detected >20% mosaicism for monosomy 7, which raised concern for a possible myelodysplastic syndrome. The clone was not detected in stimulated peripheral blood cultures and his karyotype was reported as a normal male. Because of this microarray finding, he was referred to pediatric hematology/oncology where he was confirmed to have a pre-symptomatic diagnosis of myelodysplastic syndrome and was treated with chemotherapy and a bone-marrow transplant. This case illustrates the clinical utility of microarray testing and the importance of long-term follow-up to assess patient outcomes. |
format | Online Article Text |
id | pubmed-4271515 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-42715152014-12-20 Clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism Dwivedi, Alka Chaubey nee Lyons, Michael J Kwiatkowski, Kat Bartel, Frank O Friez, Michael J Holden, Kenton R Fung, Eric T DuPont, Barbara R Mol Cytogenet Case Report There have been dramatic improvements in our ability to more accurately diagnose the underlying genetic causes of developmental delay/intellectual disability; however, there is less known about the treatment trajectory and whether or not patient management and outcomes have changed due to the information gained from genetic testing. Here we report a case study of a 20-month-old male first referred to the genetics clinic in 2008 for interhemispheric cysts, agenesis of the corpus callosum, left cortical dysplasia, and developmental delay of unknown etiology. The diagnostic work-up for this patient included chromosomal microarray which detected >20% mosaicism for monosomy 7, which raised concern for a possible myelodysplastic syndrome. The clone was not detected in stimulated peripheral blood cultures and his karyotype was reported as a normal male. Because of this microarray finding, he was referred to pediatric hematology/oncology where he was confirmed to have a pre-symptomatic diagnosis of myelodysplastic syndrome and was treated with chemotherapy and a bone-marrow transplant. This case illustrates the clinical utility of microarray testing and the importance of long-term follow-up to assess patient outcomes. BioMed Central 2014-12-04 /pmc/articles/PMC4271515/ /pubmed/25530805 http://dx.doi.org/10.1186/s13039-014-0093-4 Text en © Dwivedi et al.; licensee BioMed Central Ltd. 2014 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Case Report Dwivedi, Alka Chaubey nee Lyons, Michael J Kwiatkowski, Kat Bartel, Frank O Friez, Michael J Holden, Kenton R Fung, Eric T DuPont, Barbara R Clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism |
title | Clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism |
title_full | Clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism |
title_fullStr | Clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism |
title_full_unstemmed | Clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism |
title_short | Clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism |
title_sort | clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4271515/ https://www.ncbi.nlm.nih.gov/pubmed/25530805 http://dx.doi.org/10.1186/s13039-014-0093-4 |
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