Elizabeth VanSickle

Apr 3, 2024 | onlinelibrary.wiley.com | Elizabeth Martin |Elizabeth VanSickle |Linda Rossetti

1 INTRODUCTION Individuals with 3q interstitial deletions have previously been reported in the medical literature with several overlapping features, including developmental delay, corpus callosum differences, hypotonia, and some distinctive facial features. A number of the previously reported deletions have included GATA2. Haploinsufficiency of GATA2 has been associated with Emberger syndrome (OMIM #614038) and immunodeficiency (OMIM #614172).