Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1

Reported cases of distal 15q interstitial duplications are uncommon and do not result in a recognizable pattern of abnormalities. Some studies report prenatal overgrowth, while others describe growth retardation. We present molecular cytogenetic characterization of a 14 Mb interstitial duplication,...

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Autores principales: Ochando, Isabel, Martínez, Melanie Cristine Alonzo, Serrano, Ana María, Urbano, Antonio, Cazorla, Eduardo, Calvo, Dolores, Rueda, Joaquín
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6037148/
https://www.ncbi.nlm.nih.gov/pubmed/30013380
http://dx.doi.org/10.2147/TACG.S159377
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author Ochando, Isabel
Martínez, Melanie Cristine Alonzo
Serrano, Ana María
Urbano, Antonio
Cazorla, Eduardo
Calvo, Dolores
Rueda, Joaquín
author_facet Ochando, Isabel
Martínez, Melanie Cristine Alonzo
Serrano, Ana María
Urbano, Antonio
Cazorla, Eduardo
Calvo, Dolores
Rueda, Joaquín
author_sort Ochando, Isabel
collection PubMed
description Reported cases of distal 15q interstitial duplications are uncommon and do not result in a recognizable pattern of abnormalities. Some studies report prenatal overgrowth, while others describe growth retardation. We present molecular cytogenetic characterization of a 14 Mb interstitial duplication, encompassing 81 Online Mendelian Inheritance in Man (OMIM) genes, in a fetus with single umbilical artery and short limbs. We propose that growth restriction, previously described and present in our patient, may be due to duplication of a gene or genes contained in the 15q24 region.
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spelling pubmed-60371482018-07-16 Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1 Ochando, Isabel Martínez, Melanie Cristine Alonzo Serrano, Ana María Urbano, Antonio Cazorla, Eduardo Calvo, Dolores Rueda, Joaquín Appl Clin Genet Case Report Reported cases of distal 15q interstitial duplications are uncommon and do not result in a recognizable pattern of abnormalities. Some studies report prenatal overgrowth, while others describe growth retardation. We present molecular cytogenetic characterization of a 14 Mb interstitial duplication, encompassing 81 Online Mendelian Inheritance in Man (OMIM) genes, in a fetus with single umbilical artery and short limbs. We propose that growth restriction, previously described and present in our patient, may be due to duplication of a gene or genes contained in the 15q24 region. Dove Medical Press 2018-07-03 /pmc/articles/PMC6037148/ /pubmed/30013380 http://dx.doi.org/10.2147/TACG.S159377 Text en © 2018 Ochando et al. This work is published and licensed by Dove Medical Press Limited The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed.
spellingShingle Case Report
Ochando, Isabel
Martínez, Melanie Cristine Alonzo
Serrano, Ana María
Urbano, Antonio
Cazorla, Eduardo
Calvo, Dolores
Rueda, Joaquín
Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1
title Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1
title_full Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1
title_fullStr Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1
title_full_unstemmed Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1
title_short Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1
title_sort prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6037148/
https://www.ncbi.nlm.nih.gov/pubmed/30013380
http://dx.doi.org/10.2147/TACG.S159377
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