Prenatal sonographic and cytogenetic/molecular findings of 22q11.2 microdeletion syndrome in 48 confirmed cases in a single tertiary center
Author:
Publisher
Springer Science and Business Media LLC
Subject
Obstetrics and Gynaecology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s00404-021-06125-4.pdf
Reference54 articles.
1. Grati FR, Molina Gomes D, Ferreira JC et al (2015) Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies. Prenat Diagn 35(8):801–809. https://doi.org/10.1002/pd.4613
2. McDonald-McGinn DM, Sullivan KE (2011) Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore) 90(1):1–18. https://doi.org/10.1097/MD.0b013e3182060469
3. Maisenbacher MK, Merrion K, Pettersen B et al (2017) Incidence of the 22q11.2 deletion in a large cohort of miscarriage samples. Mol Cytogenet 10:6. https://doi.org/10.1186/s13039-017-0308-6
4. Botto LD, May K, Fernhoff PM et al (2003) A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 112:101–107. https://doi.org/10.1542/peds.112.1.101
5. Gothelf D, Frisch A, Michaelovsky E, Weizman A, Shprintzen RJ (2009) Velo-cardio-facial syndrome. J Ment Health Res Intellect Disabil 2(2):149–167. https://doi.org/10.1080/19315860902756136
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