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Table 3 Characteristics of included studies

From: Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis

  CARLSON KURAHASHI FERNANDEZ MICHAELOVSKY WU MONTEIRO HWANG MLYNARSKI REPETTO
Year 1997 1997 2005 2012 2013 2013 2014 2015 2019
Journal American J. of Human Genetics American J. of Medical Genetics American J. of Medical Genetics BMC Medical Genetics PLOS ONE Eur J Pediatr BMC Medical Genetics American J. of Human Genetics This article
Place of subjects’ selection Center for Craniofacial Disorders, USA Not Reported Red de Centros de Genetica Clınica y Molecular, Spain Behavioral Neurogenetics Center (BNC), Israel Center for Cleft Lip and palate; China Crânio-Face Brazil Project/Cardiopediatric Ambulatory unit of UNICAMP Clinical Hospital UC Davis Medical Investigation of Neuro-developmental Disorders, USA Not Reported Genetic Departments from terciary medical centers, Chile
Evaluation of deletion size Polymorphic STRP markers FISH/Southern blot Polymorphic STRP markers MLPA MLPA MLPA Droplet digital PCR MLPA/SNP Array MLPA/SNP Array
Cohort (n) 26 100 15 142 55 194 95 949 217
Individuals with 22q11 deletion (n) 24 49 15 110 43 45 80 949 217
LCR A-B/1.5 Mb (n) LCR A-C/2 Mb (n) LCR A-D/3 Mb (n) 10 5 8a 4 3 3 3 42 12
0 0   4 0 0 0 15 5
13 43 7 97 40 39 74 892 200
     4/ atypical 22q11 deletion (distal)   2 /extra duplications    
Excluded cases (n)/reason 1/unbalanced translocation 1/unbalanced translocation 0 1/ atypical nested deletion 0 of 22q11 region 1 / deletion size not reported 3/ atypical 22q11 deletions 0 0
Excluded cases without CHD or PA phenotype(n) 0 for PA 0 for CHD 0 for PA 0 for CHD 3 for PA 1 for CHD 0 for PA 0 for CHD 0 for PA 0 for CHD 3 for PA 3 for CHD 77 for PA 0 for CHD 949 for PA for CHD 0 for PA for CHD
  1. CHD Congenital Heart Defects, PA palate anomalies
  2. ano discrimination between A-B and A-C deletions