Symptoms | Our case | [9] | [8] SR9116 | [8] SR5695 | [10] patient 1a | [10] patient 1b | [10] patient 2 | Frequency | |
---|---|---|---|---|---|---|---|---|---|
a Information on 1q21.1q21.2 cases | |||||||||
Variant | Affected 1q21.1q21.2 region (GRCh37) | 145,895,747–147,897,962 | 145,261,451–148,343,412 | 145,770,626–147,831,171 | 145,932,455–147,831,171 | 146,564,742–147,735,011 | 146,641,600–147,735,011 | 145,987,155–147,735,011 | |
Size of the deletion | 2 Mb | 3 Mb | 2 Mb | 1.9 Mb | 1.17 Mb | 1.09 Mb | 1.74 Mb | ||
Parental origin | de novo | de novo | maternal | not maternal | maternal | maternal | de novo | ||
NH-CSS criteria | SGA/IUGR | 0 | 0 | 1 | 1 | NA | NA | NA | 50.0% (2/4) |
Height at 2 years (< -2 SD) | 0 | 1 | 1 | 1 | 1 | NA | 1 | 83.3% (5/6) | |
Relative macrocephaly | 0 | 0 | NA | 0 | NA | NA | 1 | 25.0% (1/4) | |
Feeding difficulties | 1 | 1 | NA | 1 | 1 | 1 | 1 | 100.0% (6/6) | |
body asymmetry | 0 | 1 | 0 | 0 | NA | NA | NA | 25.0% (1/4) | |
Protruding forehead | 0 | 1 | 0 | 1 | NA | NA | NA | 50.0% (2/4) | |
NH-CSS | 1/6 | 4/6 | 2/4 | 4/6 | 2/2 | 1/1 | 3/3 |
Symptoms | Our case | [13] Patient 1 | [13] Patient 2 | [12] | [14] | SNV cases, reviewed by [13] | Frequency | |
---|---|---|---|---|---|---|---|---|
b Molecular and clinical information on 8q12.1 patients | ||||||||
Variant | Affected 8p21.1 region (GRCh37) | 57,079,399–57,155,945 | 56,609,388–59,488,289 | 56,834,331–58,921,491 | 46,XX,del[8](q11q12) | n = 8 (cases for which information was available) | ||
Size of the deletion | 77 kb | 2.9 Mb | 2.1 Mb | NA | ||||
Origin | de novo | Maternal | de novo | de novo | ||||
NH-CSS criteria | SGA/IUGR | 0 | 0 | 1 | 1 | 1 | 6 (6) | 81.8% (9/11) |
Height at 2 years (< -2 SD) | 0 | NA | 0 | 1 | 1 | 5 (5) | 88.9% (8/9) | |
Relative macrocephaly | 0 | 0 | 1 | 1 | 0 | 2 (5) | 44.4% (4/9) | |
Feeding difficulties | 1 | 1 | 1 | 1 | NA | 6 (6) | 100.0% (10/10) | |
Body asymmetry | 0 | 0 | 0 | 0 | 0 | 0 (7) | 0.0% (0/12) | |
Protruding forehead | 1 | 1 | 1 | 0 | NA | 5 (6) | 80.0% (8/10) | |
NH-CSS | 2/6 | 2/5 | 4/6 | 4/6 | 2/4 | Score ≥ 4/6: 4 (5) | 60.0% (6/10) |