A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation

A recently described genetic disorder has been associated with 13q12.3 microdeletion spanning three genes, namely, KATNAL1, LINC00426, and HMGB1. Here, we report a new case with similar clinical features that we have followed from birth to 5 years old. The child carried a complex rearrangement with...

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Autores principales: Mandrile, Giorgia, Di Gregorio, Eleonora, Calcia, Alessandro, Brussino, Alessandro, Grosso, Enrico, Savin, Elisa, Giachino, Daniela Francesca, Brusco, Alfredo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259072/
https://www.ncbi.nlm.nih.gov/pubmed/25506442
http://dx.doi.org/10.1155/2014/470830
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author Mandrile, Giorgia
Di Gregorio, Eleonora
Calcia, Alessandro
Brussino, Alessandro
Grosso, Enrico
Savin, Elisa
Giachino, Daniela Francesca
Brusco, Alfredo
author_facet Mandrile, Giorgia
Di Gregorio, Eleonora
Calcia, Alessandro
Brussino, Alessandro
Grosso, Enrico
Savin, Elisa
Giachino, Daniela Francesca
Brusco, Alfredo
author_sort Mandrile, Giorgia
collection PubMed
description A recently described genetic disorder has been associated with 13q12.3 microdeletion spanning three genes, namely, KATNAL1, LINC00426, and HMGB1. Here, we report a new case with similar clinical features that we have followed from birth to 5 years old. The child carried a complex rearrangement with a double translocation: 46,XX,t(7;13)(p15;q14),t(11;15)(q23;q22). Array-CGH identified a de novo microdeletion at 13q12.2q13.1 spanning 3–3.4 Mb and overlapping 13q12.3 critical region. Clinical features resembling those reported in the literature confirm the existence of a distinct 13q12.3 microdeletion syndrome and provide further evidence that is useful to characterize its phenotypic expression during the 5 years of development.
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spelling pubmed-42590722014-12-14 A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation Mandrile, Giorgia Di Gregorio, Eleonora Calcia, Alessandro Brussino, Alessandro Grosso, Enrico Savin, Elisa Giachino, Daniela Francesca Brusco, Alfredo Case Rep Genet Case Report A recently described genetic disorder has been associated with 13q12.3 microdeletion spanning three genes, namely, KATNAL1, LINC00426, and HMGB1. Here, we report a new case with similar clinical features that we have followed from birth to 5 years old. The child carried a complex rearrangement with a double translocation: 46,XX,t(7;13)(p15;q14),t(11;15)(q23;q22). Array-CGH identified a de novo microdeletion at 13q12.2q13.1 spanning 3–3.4 Mb and overlapping 13q12.3 critical region. Clinical features resembling those reported in the literature confirm the existence of a distinct 13q12.3 microdeletion syndrome and provide further evidence that is useful to characterize its phenotypic expression during the 5 years of development. Hindawi Publishing Corporation 2014 2014-11-23 /pmc/articles/PMC4259072/ /pubmed/25506442 http://dx.doi.org/10.1155/2014/470830 Text en Copyright © 2014 Giorgia Mandrile 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
Mandrile, Giorgia
Di Gregorio, Eleonora
Calcia, Alessandro
Brussino, Alessandro
Grosso, Enrico
Savin, Elisa
Giachino, Daniela Francesca
Brusco, Alfredo
A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation
title A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation
title_full A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation
title_fullStr A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation
title_full_unstemmed A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation
title_short A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation
title_sort new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259072/
https://www.ncbi.nlm.nih.gov/pubmed/25506442
http://dx.doi.org/10.1155/2014/470830
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