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 | - | - |