Table 1 Summary of clinical features of individuals with 6q16.1 deletions encompassing EPHA7 characterized by aCGH
| Â | Klein et al[2] Patient 3 | Le Caignec et al[4] | Zherebstov et al[3] | Current Case |
|---|---|---|---|---|
Sex | Male | Female | Female | Male |
Array Results | Â | Â | Â | Â |
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 | Â | Â | Â | Â |
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 |
HC | NA | NA | -3 SD | NA |
Current Growth Parameters | Â | Â | Â | Â |
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 | Â | Â | Â | Â |
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 | Â | Â | Head tremor | Â |
Face shape | Bitemporal narrowing | Not reported | Flat occiput/heart-shaped face | Triangular-shaped face |
Dysmorphic Features | Â | Â | Â | Â |
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 | Â | Â | Â | Â |
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 |