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Table 1 Summary of clinical features of individuals with 6q16.1 deletions encompassing EPHA7 characterized by aCGH

From: Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

  Klein et al[2] Patient 3 Le Caignec et al[4] Zherebstov et al[3] Current Case
Sex Male Female Female Male
Array Results     
Array type BAC BAC Oligo Oligo
Deletion size 11.3–15.7 Mb 12.9–15.7 Mb 34 Mb 2.1 Mb
Breakpoints q15-q21 q15-q21 q16.1-q22.23 q16.1-q16.1
Birth Measurements     
Gestational age Not Reported 40 weeks 39 weeks 38 weeks
Weight 90% 5% -3.8 SD 3rd percentile
Length 90% 25–50% 50% 50th percentile
Current Growth Parameters     
Age 13 years 32 months 7 months 15 months
Weight NA 50% 10th percentile -3.1 SD
Height NA 25–50% -2 SD -1.8 SD
HC >95th percentile 50th percentile 10th percentile <3rd percentile
Neurological Features     
Head MRI results Normal Normal CT: subdural hemorrhage due to significant brain atrophy Questionable brain atrophy/Questionable hemorrhage
Ptosis NA NA NA Mild on left
Eye/Vision anomalies Myopia Strabismus/hypermetropia Poor visual motor development NA
Developmental delay Present Present Present Present
Microcephaly Absent Absent Present (-3 SD) Present (-2 SD)
Head control    Head tremor  
Face shape Bitemporal narrowing Not reported Flat occiput/heart-shaped face Triangular-shaped face
Dysmorphic Features     
Interpupillary distance Hyperteloric Hyperteloric Hyperteloric Normal
Epicanthal folds Present NA Absent Absent
Downslanting palpebral fissures Absent Absent Present Absent
Malformed ears Low-set Upturned, angulated Low-set/posteriorly rotated with hypoplastic helices Cupped ears, periauricular tags
Microretrognathia Present Present Present Absent
Organ Malformation     
Renal/genitourinary anomalies Post-urethral valve NA Bilateral echogenic kidneys/pelvicaliectasis of the right kidney Normal
Cardiac anomalies Normal NA Tetrology of Fallot Normal
Hypotonia Present Present Present Present
  1. HC: head circumference; NA: not available; SD: standard deviation