Open AccessTwo new reported cases of 16q22.3q23.3 duplication syndrome highlight intrafamilial variability and potential sex expression differences within a rare duplication syndrome
Author(s) -
Gunther Kathryn,
Mowrey Kate,
Farach Laura Schoch
Publication year - 2021
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.3862
Subject(s) - gene duplication , medicine , phenotype , genetics , bioinformatics , gene , biology
Abstract 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.