Table 3.
Characteristics of included studies
| 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 |
CHD Congenital Heart Defects, PA palate anomalies
ano discrimination between A-B and A-C deletions