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

Center:
Fiscal Year:
2021
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Product 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.
Keyword(s):
16q, copy number variants, Distal duplication of chromosome 16, intrafamilial variability, psychiatric predisposition
Product/Publication Type(s):
Peer-reviewed publications in scholarly journals Published/In Press
Target Audience:
Consumers/Families, Professionals, Policymakers, Students
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COVID-19 Related Data:
N/A