Table 2.
Summary of deletion data and clinical presentation of all published patients with 6p22-p24 deletions
| Pt (a) | Reference | Gender | Age (b) | Chr6 coordinates (hg19) (c) | Size (Mb) (d) | DD/ID | Neurological abnormalities | ASDs | Behavioural abnormalities (e) | Structural heart defects | Skeletal anomalies | Dental anomalies | Hernia | Dysmorphic features |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 |
Present report |
F |
15y |
13071924-17918584 bp |
4.8 |
+ |
+ |
- |
+ |
N/A |
+ |
+ |
- |
+ |
| 2 |
Present report |
M |
4y |
15081747-18207178 bp |
3.1 |
+ |
+ |
- |
+ |
+ |
N/A |
- |
- |
+ |
| 3 |
Present report |
F |
6.5y |
14545576-16846846 bp |
2.3 |
+ |
+ |
+ |
+ |
- |
N/A |
+ |
+ |
+ |
| 4 |
Present report |
M |
6.5y |
15405377-15594945 bp |
0.2 |
+ (f) |
+ |
- |
- |
N/A |
N/A |
- |
- |
+ |
| 5 |
Present report |
F |
17y |
16215803-16332297 bp |
0.1 |
+ |
(+) (g) |
- |
+ |
N/A |
N/A |
- |
- |
- |
| 1 |
[1] |
M |
15y |
13662096-19042218 bp |
5.1 |
+ |
+ |
+ |
+ |
- |
+ |
N/A |
N/A |
+ |
| 2 |
[1] |
M |
4y |
16572367-17543199 bp |
1.0 |
+ |
N/A |
(+) (h) |
+ |
N/A |
N/A |
N/A |
N/A |
- |
| 3 |
[1] |
F |
1m |
9621501-24218259 bp |
14.6 |
N/A |
N/A |
N/A |
N/A |
+ |
N/A |
N/A |
N/A |
+ |
| 4 |
[1] |
M |
17y |
10269968-13915223 bp |
3.6 |
+ |
+ |
- |
+ |
- |
+ |
N/A |
N/A |
+ |
| 5 |
[1] |
F |
7y |
16186391-21421705 bp |
5.2 |
+ |
+ |
- |
N/A |
N/A |
N/A |
N/A |
N/A |
- |
| 6 |
[1] |
M |
3y |
12058814-20896726 bp |
8.8 |
+ |
+ |
- |
+ |
+ |
+ |
+ |
N/A |
+ |
| A |
[14] |
M |
3y |
(2.3-4.2) – (25.2-27.0) or (13.4-15.2) – (30.4-32.1) Mb |
N/A |
+ |
+ |
N/A |
N/A |
+ |
+ |
N/A |
+ |
+ |
| B |
[12] |
M |
9m |
(7.1-13.4) – (15.2-25.2) Mb |
N/A |
N/A |
+ |
N/A |
N/A |
+ |
N/A |
N/A |
+ |
+ |
| C |
[9, Pt 1] |
M |
15y |
14.4 – 21.6 Mb |
N/A |
+ |
+ |
N/A |
(+) (i) |
N/A |
N/A |
+ |
+ |
+ |
| D |
[9, Pt 2] |
F |
13m |
11.9 – 18.7 Mb |
N/A |
+ |
+ |
N/A |
N/A |
+ |
N/A |
N/A |
N/A |
+ |
| E |
[10, Pt 91–145] |
F |
34m |
(13.0-14.0) – 21.7 Mb |
N/A |
+ |
+ |
N/A |
N/A |
N/A |
N/A |
N/A |
- |
+ |
| F |
[10, Pt 95–800] |
M |
20y |
10.0 – 15.8 Mb |
N/A |
+ |
+ |
N/A |
+ |
N/A |
+ |
|
- |
+ |
| G |
[10, Pt PF] |
M |
4y |
10.0 – 18.7 Mb |
N/A |
+ |
N/A |
N/A |
N/A |
N/A |
- |
N/A |
+ |
+ |
| H |
[11] |
M |
23m |
(4.2-6.1) – (10.4-11.9) Mb |
N/A |
N/A |
N/A |
N/A |
N/A |
+ |
+ |
N/A |
N/A |
+ |
| I |
[13, Pt AU010604] |
M |
N/A |
13889301-15153952 bp |
1.3 |
N/A |
N/A |
+ |
N/A |
N/A |
N/A |
N/A |
N/A |
N/A |
| J |
[15] |
F |
16y |
14446670-27741682 bp |
13.3 |
+ |
+ |
N/A |
+ |
+ |
+ |
+ |
N/A |
+ |
| K |
[4] |
F |
4y |
16132021-23152021 bp |
7.0 |
+ |
N/A |
- |
- |
+ |
N/A |
N/A |
- |
+ |
| L |
[1] |
N/A |
N/A |
18829825-23576125 bp |
4.7 |
+ |
+ |
+ |
N/A |
N/A |
N/A |
N/A |
N/A |
+ |
| M |
[2] |
F |
11y |
17281809-24786325 bp |
7.5 |
+ |
N/A |
N/A |
N/A |
N/A |
N/A |
N/A |
N/A |
+ |
| Total | 20 | 16 (17) | 4 (5) | 10 (11) | 9 | 8 | 5 | 5 | 20 |
Legend: +, feature present; ASDs, autism spectrum disorders; chr, chromosome; DD, developmental delay; F, female; ID, intellectual disability; M, male; m, month-old; N/A, information not available; Pt, patient; y, year-old; (a) codes for previous patients are according to [1], except from M [2]; (b) age at last examination; (c) deleted region for previous Patients 1–6 and A-L from [1], and in M deduced from the deleted genes noted by the authors [2]; (d) minimum size; (e) includes a wide spectrum of behavioural abnormalities, possibly also undiagnosed ASD; (f) borderline intellectual functioning (IQ =74); (g) possibly present; (h) suspected to have ASDs, but not formally tested; (i) poor concentration.