DiGeorge syndrome chromosome region deletion and duplication: Prenatal genotype‐phenotype variability in fetal ultrasound and MRI
Author:
Affiliation:
1. Department of Gynecology and ObstetricsSozialmedizinisches Zentrum Ost – Donauspital Vienna Austria
Publisher
Wiley
Subject
Genetics (clinical),Obstetrics and Gynecology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/pd.5572
Reference33 articles.
1. Genetic counseling for the 22q11.2 deletion
2. Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion
3. 22q11.2 duplication syndrome: Two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes
4. A Population-Based Study of the 22q11.2 Deletion: Phenotype, Incidence, and Contribution to Major Birth Defects in the Population
5. Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies
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