Table 1 |
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Summary of clinical features of individuals with 6q16.1 deletions encompassing EPHA7 characterized by aCGH |
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|
Klein et al[2] Patient 3 |
Le Caignec et al[4] |
Zherebstov et al[3] |
Current Case |
|
|
|
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|
Sex |
Male |
Female |
Female |
Male |
|
Array Results |
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|
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 |
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|
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 |
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|
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 |
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|
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 |
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|
Face shape |
Bitemporal narrowing |
Not reported |
Flat occiput/heart-shaped face |
Triangular-shaped face |
|
Dysmorphic Features |
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|
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 |
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|
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 |
|
|
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|
HC: head circumference; NA: not available; SD: standard deviation |
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|
Traylor et al. Molecular Cytogenetics 2009 2:17 doi:10.1186/1755-8166-2-17 |
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