Microduplication 22q11.2: A benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?—Report of two families
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference9 articles.
1. Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome
2. Incidence of microduplication 22q11.2 in patients referred for FISH testing for velo cardiofacial and DiGeorge syndromes
3. The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies
4. Low-Copy Repeats Mediate the Common 3-Mb Deletion in Patients with Velo-cardio-facial Syndrome
5. DNA microarray analysis identifies candidate regions and genes in unexplained mental retardation
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2. The impact of 22q11.2 copy-number variants on human traits in the general population;The American Journal of Human Genetics;2023-02
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