A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities

Insertional translocations in which a duplicated region of one chromosome is inserted into another chromosome are very rare. We report a 16.5-year-old girl with a terminal duplication at 9q34.3 of paternal origin inserted into 19q13.4. Chromosomal analysis revealed the karyotype 46,XX,der(19)ins(19;...

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Autores principales: Singh, Shalinder, Ashton, Fern, Marquis-Nicholson, Renate, Love, Jennifer M., Lan, Chuan-Ching, Aftimos, Salim, George, Alice M., Love, Donald R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3502809/
https://www.ncbi.nlm.nih.gov/pubmed/23198235
http://dx.doi.org/10.1155/2012/459602
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author Singh, Shalinder
Ashton, Fern
Marquis-Nicholson, Renate
Love, Jennifer M.
Lan, Chuan-Ching
Aftimos, Salim
George, Alice M.
Love, Donald R.
author_facet Singh, Shalinder
Ashton, Fern
Marquis-Nicholson, Renate
Love, Jennifer M.
Lan, Chuan-Ching
Aftimos, Salim
George, Alice M.
Love, Donald R.
author_sort Singh, Shalinder
collection PubMed
description Insertional translocations in which a duplicated region of one chromosome is inserted into another chromosome are very rare. We report a 16.5-year-old girl with a terminal duplication at 9q34.3 of paternal origin inserted into 19q13.4. Chromosomal analysis revealed the karyotype 46,XX,der(19)ins(19;9)(q13.4;q34.3q34.3)pat. Cytogenetic microarray analysis (CMA) identified a ~2.3Mb duplication of 9q34.3 → qter, which was confirmed by Fluorescence in situ hybridisation (FISH). The duplication at 9q34.3 is the smallest among the cases reported so far. The proband exhibits similar clinical features to those previously reported cases with larger duplication events.
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spelling pubmed-35028092012-11-29 A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities Singh, Shalinder Ashton, Fern Marquis-Nicholson, Renate Love, Jennifer M. Lan, Chuan-Ching Aftimos, Salim George, Alice M. Love, Donald R. Case Rep Pediatr Case Report Insertional translocations in which a duplicated region of one chromosome is inserted into another chromosome are very rare. We report a 16.5-year-old girl with a terminal duplication at 9q34.3 of paternal origin inserted into 19q13.4. Chromosomal analysis revealed the karyotype 46,XX,der(19)ins(19;9)(q13.4;q34.3q34.3)pat. Cytogenetic microarray analysis (CMA) identified a ~2.3Mb duplication of 9q34.3 → qter, which was confirmed by Fluorescence in situ hybridisation (FISH). The duplication at 9q34.3 is the smallest among the cases reported so far. The proband exhibits similar clinical features to those previously reported cases with larger duplication events. Hindawi Publishing Corporation 2012 2012-11-13 /pmc/articles/PMC3502809/ /pubmed/23198235 http://dx.doi.org/10.1155/2012/459602 Text en Copyright © 2012 Shalinder Singh et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Singh, Shalinder
Ashton, Fern
Marquis-Nicholson, Renate
Love, Jennifer M.
Lan, Chuan-Ching
Aftimos, Salim
George, Alice M.
Love, Donald R.
A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities
title A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities
title_full A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities
title_fullStr A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities
title_full_unstemmed A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities
title_short A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities
title_sort novel 2.3 mb microduplication of 9q34.3 inserted into 19q13.4 in a patient with learning disabilities
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3502809/
https://www.ncbi.nlm.nih.gov/pubmed/23198235
http://dx.doi.org/10.1155/2012/459602
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