Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference32 articles.
1. 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome;Ben-Shachar;Am. J. Hum. Genet.,2008
2. Prenatal diagnosis of 22q11.2 copy number abnormalities in fetuses via single nucleotide polymorphism array;Cai;Mol. Biol. Rep.,2020
3. Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot;Carli;J. Genet.,2021
4. Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23;Chang;Gene,2015
5. Clinical and molecular description of the prenatal diagnosis of a fetus with a maternally inherited microduplication 22q11.2 of 2.5 Mb;Christopoulou;Gene,2013
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA Screening;Case Reports in Genetics;2023-11-20
2. Preliminary study of noninvasive prenatal screening for 22q11.2 deletion/duplication syndrome using multiplex dPCR assay;Orphanet Journal of Rare Diseases;2023-09-08
3. Noninvasive Prenatal Screening for 22q11.2 Deletion/Duplication Syndrome Using multiplex dPCR;2023-03-27
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