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Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22
BACKGROUND: Down syndrome, typically caused by trisomy 21, may also be associated by duplications of the Down syndrome critical region (DSCR) on chromosome 21q22. However, patients with small duplications of DSCR without accompanying deletions have rarely been reported. CASE PRESENTATION: Here we re...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6310980/ https://www.ncbi.nlm.nih.gov/pubmed/30619508 http://dx.doi.org/10.1186/s13039-018-0410-4 |
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author | Schnabel, Franziska Smogavec, Mateja Funke, Rudolf Pauli, Silke Burfeind, Peter Bartels, Iris |
author_facet | Schnabel, Franziska Smogavec, Mateja Funke, Rudolf Pauli, Silke Burfeind, Peter Bartels, Iris |
author_sort | Schnabel, Franziska |
collection | PubMed |
description | BACKGROUND: Down syndrome, typically caused by trisomy 21, may also be associated by duplications of the Down syndrome critical region (DSCR) on chromosome 21q22. However, patients with small duplications of DSCR without accompanying deletions have rarely been reported. CASE PRESENTATION: Here we report a 5½-year-old boy with clinical features of Down syndrome including distinct craniofacial dysmorphism and sandal gaps as well as developmental delay. Conventional karyotype was normal, whereas interphase FISH analysis revealed three signals for DSCR in approximately 40% of lymphocytes and 80% of buccal mucosa cells. Array-CGH analysis confirmed a 2.56 Mb duplication of chromosome 21q22.13q22.2 encompassing DYRK1A. CONCLUSION: This presents one of the smallest duplications within DSCR leading to a Down syndrome phenotype. Since the dosage sensitive gene DYRK1A is the only duplicated candidate DSCR gene in our patient, this finding supports the hypothesis that DYRK1A contributes to dysmorphic and intellectual features of Down syndrome even in a mosaic state. |
format | Online Article Text |
id | pubmed-6310980 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-63109802019-01-07 Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22 Schnabel, Franziska Smogavec, Mateja Funke, Rudolf Pauli, Silke Burfeind, Peter Bartels, Iris Mol Cytogenet Case Report BACKGROUND: Down syndrome, typically caused by trisomy 21, may also be associated by duplications of the Down syndrome critical region (DSCR) on chromosome 21q22. However, patients with small duplications of DSCR without accompanying deletions have rarely been reported. CASE PRESENTATION: Here we report a 5½-year-old boy with clinical features of Down syndrome including distinct craniofacial dysmorphism and sandal gaps as well as developmental delay. Conventional karyotype was normal, whereas interphase FISH analysis revealed three signals for DSCR in approximately 40% of lymphocytes and 80% of buccal mucosa cells. Array-CGH analysis confirmed a 2.56 Mb duplication of chromosome 21q22.13q22.2 encompassing DYRK1A. CONCLUSION: This presents one of the smallest duplications within DSCR leading to a Down syndrome phenotype. Since the dosage sensitive gene DYRK1A is the only duplicated candidate DSCR gene in our patient, this finding supports the hypothesis that DYRK1A contributes to dysmorphic and intellectual features of Down syndrome even in a mosaic state. BioMed Central 2018-12-29 /pmc/articles/PMC6310980/ /pubmed/30619508 http://dx.doi.org/10.1186/s13039-018-0410-4 Text en © The Author(s). 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. 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 Schnabel, Franziska Smogavec, Mateja Funke, Rudolf Pauli, Silke Burfeind, Peter Bartels, Iris Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22 |
title | Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22 |
title_full | Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22 |
title_fullStr | Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22 |
title_full_unstemmed | Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22 |
title_short | Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22 |
title_sort | down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22 |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6310980/ https://www.ncbi.nlm.nih.gov/pubmed/30619508 http://dx.doi.org/10.1186/s13039-018-0410-4 |
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