Two new reported cases of 16q22.3q23.3 duplication syndrome highlight intrafamilial variability and potential sex expression differences within a rare duplication syndrome

Two new cases of 16q22.3q23.3 Duplication syndrome demonstrate that phenotype can vary from severely affected to mild psychiatric concerns, even within the same family and identical duplications.

Detalles Bibliográficos
Autores principales: Gunther, Kathryn, Mowrey, Kate, Farach, Laura Schoch
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7981733/
https://www.ncbi.nlm.nih.gov/pubmed/33768904
http://dx.doi.org/10.1002/ccr3.3862
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author Gunther, Kathryn
Mowrey, Kate
Farach, Laura Schoch
author_facet Gunther, Kathryn
Mowrey, Kate
Farach, Laura Schoch
author_sort Gunther, Kathryn
collection PubMed
description Two new cases of 16q22.3q23.3 Duplication syndrome demonstrate that phenotype can vary from severely affected to mild psychiatric concerns, even within the same family and identical duplications.
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spelling pubmed-79817332021-03-24 Two new reported cases of 16q22.3q23.3 duplication syndrome highlight intrafamilial variability and potential sex expression differences within a rare duplication syndrome Gunther, Kathryn Mowrey, Kate Farach, Laura Schoch Clin Case Rep Case Reports Two new cases of 16q22.3q23.3 Duplication syndrome demonstrate that phenotype can vary from severely affected to mild psychiatric concerns, even within the same family and identical duplications. John Wiley and Sons Inc. 2021-01-27 /pmc/articles/PMC7981733/ /pubmed/33768904 http://dx.doi.org/10.1002/ccr3.3862 Text en © 2021 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-nc/4.0/ 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
Gunther, Kathryn
Mowrey, Kate
Farach, Laura Schoch
Two new reported cases of 16q22.3q23.3 duplication syndrome highlight intrafamilial variability and potential sex expression differences within a rare duplication syndrome
title Two new reported cases of 16q22.3q23.3 duplication syndrome highlight intrafamilial variability and potential sex expression differences within a rare duplication syndrome
title_full Two new reported cases of 16q22.3q23.3 duplication syndrome highlight intrafamilial variability and potential sex expression differences within a rare duplication syndrome
title_fullStr Two new reported cases of 16q22.3q23.3 duplication syndrome highlight intrafamilial variability and potential sex expression differences within a rare duplication syndrome
title_full_unstemmed Two new reported cases of 16q22.3q23.3 duplication syndrome highlight intrafamilial variability and potential sex expression differences within a rare duplication syndrome
title_short Two new reported cases of 16q22.3q23.3 duplication syndrome highlight intrafamilial variability and potential sex expression differences within a rare duplication syndrome
title_sort two new reported cases of 16q22.3q23.3 duplication syndrome highlight intrafamilial variability and potential sex expression differences within a rare duplication syndrome
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7981733/
https://www.ncbi.nlm.nih.gov/pubmed/33768904
http://dx.doi.org/10.1002/ccr3.3862
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AT farachlauraschoch twonewreportedcasesof16q223q233duplicationsyndromehighlightintrafamilialvariabilityandpotentialsexexpressiondifferenceswithinarareduplicationsyndrome

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