Clinical report: variable phenotypic expression in a large sibling cohort with a deletion of 4p16.1

We report a half‐sibling cohort with deletion of 4p16.1, astigmatism, gross and fine motor delay, variable intellectual disability, and variable behavioral concerns. However, two siblings without the deletion also had learning delays and psychological concerns. Thus, variable phenotypic expression w...

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Detalles Bibliográficos
Autores principales: Guy, Carrie, Wang, Xianfu, Lu, Xianglan, Lu, Jin, Li, Shibo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5054462/
https://www.ncbi.nlm.nih.gov/pubmed/27761238
http://dx.doi.org/10.1002/ccr3.638
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author Guy, Carrie
Wang, Xianfu
Lu, Xianglan
Lu, Jin
Li, Shibo
author_facet Guy, Carrie
Wang, Xianfu
Lu, Xianglan
Lu, Jin
Li, Shibo
author_sort Guy, Carrie
collection PubMed
description We report a half‐sibling cohort with deletion of 4p16.1, astigmatism, gross and fine motor delay, variable intellectual disability, and variable behavioral concerns. However, two siblings without the deletion also had learning delays and psychological concerns. Thus, variable phenotypic expression was seen and the significance of deletion of 4p16.1 remains unclear.
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spelling pubmed-50544622016-10-19 Clinical report: variable phenotypic expression in a large sibling cohort with a deletion of 4p16.1 Guy, Carrie Wang, Xianfu Lu, Xianglan Lu, Jin Li, Shibo Clin Case Rep Case Reports We report a half‐sibling cohort with deletion of 4p16.1, astigmatism, gross and fine motor delay, variable intellectual disability, and variable behavioral concerns. However, two siblings without the deletion also had learning delays and psychological concerns. Thus, variable phenotypic expression was seen and the significance of deletion of 4p16.1 remains unclear. John Wiley and Sons Inc. 2016-08-18 /pmc/articles/PMC5054462/ /pubmed/27761238 http://dx.doi.org/10.1002/ccr3.638 Text en © 2016 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (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
Guy, Carrie
Wang, Xianfu
Lu, Xianglan
Lu, Jin
Li, Shibo
Clinical report: variable phenotypic expression in a large sibling cohort with a deletion of 4p16.1
title Clinical report: variable phenotypic expression in a large sibling cohort with a deletion of 4p16.1
title_full Clinical report: variable phenotypic expression in a large sibling cohort with a deletion of 4p16.1
title_fullStr Clinical report: variable phenotypic expression in a large sibling cohort with a deletion of 4p16.1
title_full_unstemmed Clinical report: variable phenotypic expression in a large sibling cohort with a deletion of 4p16.1
title_short Clinical report: variable phenotypic expression in a large sibling cohort with a deletion of 4p16.1
title_sort clinical report: variable phenotypic expression in a large sibling cohort with a deletion of 4p16.1
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5054462/
https://www.ncbi.nlm.nih.gov/pubmed/27761238
http://dx.doi.org/10.1002/ccr3.638
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