A novel unbalanced translocation between the short arms of chromosomes 6 and 16 in a newborn girl: Clinical features and management

The reporting of previously undescribed genetic mutations and resulting clinical phenotypes guides management and enables a more accurate prognosis for clinicians treating newborns with similar features. Previous cases of 6p deletions and 16p duplications have been described as separate entities. Th...

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Detalles Bibliográficos
Autores principales: de Sousa, Paula, Kennedy, Alasdair, Lalani, Heva H. S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028415/
https://www.ncbi.nlm.nih.gov/pubmed/29988690
http://dx.doi.org/10.1002/ccr3.1574
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author de Sousa, Paula
Kennedy, Alasdair
Lalani, Heva H. S.
author_facet de Sousa, Paula
Kennedy, Alasdair
Lalani, Heva H. S.
author_sort de Sousa, Paula
collection PubMed
description The reporting of previously undescribed genetic mutations and resulting clinical phenotypes guides management and enables a more accurate prognosis for clinicians treating newborns with similar features. Previous cases of 6p deletions and 16p duplications have been described as separate entities. This patient presents with both and has a unique phenotype.
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spelling pubmed-60284152018-07-09 A novel unbalanced translocation between the short arms of chromosomes 6 and 16 in a newborn girl: Clinical features and management de Sousa, Paula Kennedy, Alasdair Lalani, Heva H. S. Clin Case Rep Case Reports The reporting of previously undescribed genetic mutations and resulting clinical phenotypes guides management and enables a more accurate prognosis for clinicians treating newborns with similar features. Previous cases of 6p deletions and 16p duplications have been described as separate entities. This patient presents with both and has a unique phenotype. John Wiley and Sons Inc. 2018-05-24 /pmc/articles/PMC6028415/ /pubmed/29988690 http://dx.doi.org/10.1002/ccr3.1574 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
de Sousa, Paula
Kennedy, Alasdair
Lalani, Heva H. S.
A novel unbalanced translocation between the short arms of chromosomes 6 and 16 in a newborn girl: Clinical features and management
title A novel unbalanced translocation between the short arms of chromosomes 6 and 16 in a newborn girl: Clinical features and management
title_full A novel unbalanced translocation between the short arms of chromosomes 6 and 16 in a newborn girl: Clinical features and management
title_fullStr A novel unbalanced translocation between the short arms of chromosomes 6 and 16 in a newborn girl: Clinical features and management
title_full_unstemmed A novel unbalanced translocation between the short arms of chromosomes 6 and 16 in a newborn girl: Clinical features and management
title_short A novel unbalanced translocation between the short arms of chromosomes 6 and 16 in a newborn girl: Clinical features and management
title_sort novel unbalanced translocation between the short arms of chromosomes 6 and 16 in a newborn girl: clinical features and management
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028415/
https://www.ncbi.nlm.nih.gov/pubmed/29988690
http://dx.doi.org/10.1002/ccr3.1574
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