Table 1 Comparison of the newly identified patients with reported patients with deletions in 1q21.1q21.2 and 8q12.1 of similar sizes. In fact, in several public databases (DECIPHER, ClinVar), further cases with deletions affecting these regions are documented, but none of them exhibited alterations of similar size. Nearly all patients have been referred for molecular karyotyping due to clinical features of SRS, but only the NHS criteria are shown here
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) | |