Table 1.
Summary of the aCGH results and clinical data of presently reported patients with 6p22.3-p24.1 deletions
| Patient | 1 | 2 | 3 | 4 | 5 |
|---|---|---|---|---|---|
| Gender (M/F) |
F |
M |
F |
M |
F |
| Age at last follow-up (y) |
15 |
4 |
6.5 |
6.5 |
17 |
|
Deletion |
|
|
|
|
|
| Chromosomal band |
6p22.3-p24.1 |
6p22.3-p23 |
6p22.3-p23 |
6p22.3 |
6p22.3 |
| Position (bp, hg19) |
13071924-17918584 |
15081747-18207178 |
14545576-16846846 |
15405377-15594945 |
16215803-16332297 |
| Deleted candidate genes |
JARID2, ATXN1 |
JARID2, ATXN1 |
JARID2, ATXN1 |
JARID2 |
ATXN1 |
| Size (kb) |
4846 |
3125 |
2301 |
189 |
116 |
| Agilent array |
105A |
180K |
44K |
105A |
244A |
|
Face |
|
|
|
|
|
| Broad forehead |
+ |
+ |
+ |
- |
- |
| Prominent forehead |
- |
+ |
- |
- |
- |
| Frontal bossing |
+ |
- |
+ |
- |
- |
| Prominent supraorbital ridges |
+ |
+ |
+ |
+ |
- |
| Deep set eyes |
+ |
+ |
+ |
+ |
- |
| Hypotelorism |
+ |
- |
- |
- |
- |
| Hypertelorism |
- |
- |
+ |
- |
- |
| Strabismus |
+ |
- |
- |
+ |
- |
| Infraorbital dark circles |
+ |
+ |
+ |
+ |
- |
| Midface hypoplasia |
+ |
+ |
+ |
+ |
- |
| Deep set nasal root |
+ |
+ |
- |
+ |
- |
| Bulbous nasal tip |
+ |
+ |
+ |
+ |
- |
| Short philtrum |
+ |
+ |
- |
+ |
- |
| Full lips |
+ |
+ |
+ |
+ |
- |
| Marked Cupid's bow |
+ |
+ |
+ |
+ |
- |
| Accentuated central depression lower lip |
+ |
+ |
- |
+ |
- |
| Prominent or pointed chin |
+ |
+ |
+ |
+ |
- |
|
Neurology |
|
|
|
|
|
| Intellectual disability |
Moderate |
Moderate |
Severe |
Borderline |
Mild |
| Gait disturbance |
+ |
+ |
+ |
+ |
- |
| Dyspraxia |
+ |
? |
? |
+ |
- |
| Muscle tone |
Nl |
Nl |
Nl (neonatal hypotonia) |
Nl (early-onset hypotonia) |
Nl |
| Seizures |
+ |
+ |
- |
- |
- |
| Behavioural abnormalities |
Hyperactivity, sleeping difficulties |
Poor eye contact, repetetive behaviour |
ASDs, hyperactivity, sleeping difficulties |
Nl |
Psycotic episode, aggression, hyperactivity, repetetive behaviour |
|
Other |
|
|
|
|
|
| Structual heart defects |
NE |
Atrial septal defect |
- |
NE |
NE |
| Umbilical hernia |
- |
- |
+ |
- |
- |
| Kyphosis |
+ |
- |
- |
- |
- |
| Hand anomalies |
Cl, variable short metacarpal bones |
Cl |
Cl |
Cl |
- |
| Foot anomalies |
Pes planovalgus, Sy 2–4 toes, SG, crooked 4th toes ul 3rd toes, short and broad H, variable short metatarsal bones |
Pes planovalgus, Sy 2–4 toes |
Ul 5th toes, 2nd and 4th toes lying over 3rd toes |
Sy 2–3 toes, SG, broad H |
- |
| Dental anomalies | Pointed dens caninus | - | Irregularly placed frontal teeth | - | - |
Legend: +, feature present; -, feature absent; ?, not cooperative for sufficient assessment, ASDs; autism spectrum disorders; Cl, clinodactyly 5th fingers; F, female; H, halluxes; M, male; NE, not examined; Nl, normal; SG, sandal gap; Sy, syndactyly; Ul, underlying.