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Table 1 Summary of the aCGH results and clinical data of presently reported patients with 6p22.3-p24.1 deletions

From: Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability

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 - -
  1. 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.