Table 1 |
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Summary of clinical features found in individuals with common-sized 3q29 microdeletion in this and previous studies. |
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|
Feature |
Number of individuals in present study with feature |
Number of individuals in previous reports with feature |
Number of individuals reported to date with feature/Number of individuals reported to datea |
|
|
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|
Mild/moderate mental retardation |
7 |
8 |
15/15 |
|
Long, narrow face |
0 |
3 |
3/15 |
|
Short philtrum |
0 |
6 |
6/15 |
|
High nasal bridge |
4 |
5 |
9/15 |
|
Large, low-set, posteriorly rotated ears |
4 |
1 |
5/15 |
|
Speech delay |
3 |
5 |
8/15 |
|
Delayed walking |
2 |
5 |
7/15 |
|
Autism/autistic features |
1 |
3 |
4/15 |
|
Chest-cavity deformities |
1 |
2 |
3/15 |
|
Ataxic gait/gait abnormalities |
2 |
3 |
5/15 |
|
Long, tapering fingers |
0 |
3 |
3/15 |
|
Microcephalya |
5 |
2 |
7/15 |
|
Macrocephaly |
1 |
0 |
1/15 |
|
Cleft lip/palate |
0 |
1 |
1/15 |
|
High-arched palate |
2 |
0 |
2/15 |
|
Widely spaced teeth |
2 |
0 |
2/15 |
|
Recurrent middle ear infections |
1 |
1 |
2/15 |
|
Ligamentous laxity |
0 |
1 |
1/15 |
|
Abnormal skin pigmentation |
0 |
1 |
1/15 |
|
Horseshoe kidney |
0 |
1 |
1/15 |
|
Hypospadias |
1 |
1 |
2/15 |
|
Nasal voice |
1 |
1 |
2/15 |
|
Six lumbar vertebrae |
0 |
1 |
1/15 |
|
Cerebral sigmoid venous thrombosis |
0 |
1 |
1/15 |
|
|
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a Includes previous reports [1-3] and patients reported in this paper; b includes reports of progressive microcephaly |
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Ballif et al. Molecular Cytogenetics 2008 1:8 doi:10.1186/1755-8166-1-8 |
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