Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA

KEY CLINICAL MEASSAGE: Patients with rare deletions in 16q12 and a duplication of 17p, both interstitial and de novo. Only seven cases have been described with these deletions and none of them presented other chromosomal abnormalities. The proband showed a complex phenotype with features found in pa...

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Autores principales: Sanchez-Jimeno, Carolina, Bustamante-Aragonés, Ana, Infantes-Barbero, Fernando, Rodriguez De Alba, Marta, Ramos, Carmen, Trujillo-Tiebas, María Jose, Lorda-Sánchez, Isabel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2014
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4270714/
https://www.ncbi.nlm.nih.gov/pubmed/25548634
http://dx.doi.org/10.1002/ccr3.117
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author Sanchez-Jimeno, Carolina
Bustamante-Aragonés, Ana
Infantes-Barbero, Fernando
Rodriguez De Alba, Marta
Ramos, Carmen
Trujillo-Tiebas, María Jose
Lorda-Sánchez, Isabel
author_facet Sanchez-Jimeno, Carolina
Bustamante-Aragonés, Ana
Infantes-Barbero, Fernando
Rodriguez De Alba, Marta
Ramos, Carmen
Trujillo-Tiebas, María Jose
Lorda-Sánchez, Isabel
author_sort Sanchez-Jimeno, Carolina
collection PubMed
description KEY CLINICAL MEASSAGE: Patients with rare deletions in 16q12 and a duplication of 17p, both interstitial and de novo. Only seven cases have been described with these deletions and none of them presented other chromosomal abnormalities. The proband showed a complex phenotype with features found in patients with dup17p11.2 syndrome, deletions in 16q12.
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spelling pubmed-42707142014-12-29 Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA Sanchez-Jimeno, Carolina Bustamante-Aragonés, Ana Infantes-Barbero, Fernando Rodriguez De Alba, Marta Ramos, Carmen Trujillo-Tiebas, María Jose Lorda-Sánchez, Isabel Clin Case Rep Case Reports KEY CLINICAL MEASSAGE: Patients with rare deletions in 16q12 and a duplication of 17p, both interstitial and de novo. Only seven cases have been described with these deletions and none of them presented other chromosomal abnormalities. The proband showed a complex phenotype with features found in patients with dup17p11.2 syndrome, deletions in 16q12. Blackwell Publishing Ltd 2014-12 2014-09-15 /pmc/articles/PMC4270714/ /pubmed/25548634 http://dx.doi.org/10.1002/ccr3.117 Text en © 2014 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. http://creativecommons.org/licenses/by-nc/3.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
Sanchez-Jimeno, Carolina
Bustamante-Aragonés, Ana
Infantes-Barbero, Fernando
Rodriguez De Alba, Marta
Ramos, Carmen
Trujillo-Tiebas, María Jose
Lorda-Sánchez, Isabel
Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA
title Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA
title_full Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA
title_fullStr Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA
title_full_unstemmed Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA
title_short Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA
title_sort two interstitial rearrangements (16q deletion and 17p duplication) in a child with mr/mca
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4270714/
https://www.ncbi.nlm.nih.gov/pubmed/25548634
http://dx.doi.org/10.1002/ccr3.117
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