A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference15 articles.
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2. Chromosomal microdeletions: dissecting del22q11 syndrome;Lindsay;Nat Rev Genet,2001
3. Velo-cardio-facial syndrome: a distinctive behavioral phenotype;Shprintzen;MRDD Res Rev,2000
4. Fine mapping of the constitutional translocation t(11;22)(q23;q11);Tapia-Páez;Hum Genet,2000
5. The 11q; 22q translocation: a European collaborative analysis of 43 cases;Fraccaro;Hum Genet,1980
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1. 22q11.2 duplications: Expanding the clinical presentation;American Journal of Medical Genetics Part A;2021-11-29
2. Prenatal Diagnosis of Microdeletions or Microduplications in the Proximal, Central, and Distal Regions of Chromosome 22q11.2: Ultrasound Findings and Pregnancy Outcome;Frontiers in Genetics;2019-08-30
3. Modeling and Predicting Developmental Trajectories of Neuropsychiatric Dimensions Associated With Copy Number Variations;International Journal of Neuropsychopharmacology;2019-05-28
4. Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene;Molecular Genetics & Genomic Medicine;2019-05
5. Episodic Behavioural Regression in an 8-Year-Old Female: Sequelae of 22q11.2 Duplication Syndrome;Case Reports in Psychiatry;2018-08-09
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