Table 1 |
||||
|
Clinical findings of patients with 1q deletion. |
||||
|
Feature |
Present patients |
van Bon et al., 2008 |
van Bever et al., 2005 |
de Vries et al., 2001 |
|
|
||||
|
Karyotype |
Monosomy 1q44→1qter |
Monosomy 1q43→q44 |
Monosomy 1q43→q44 |
Monosomy 1q43→qter |
|
|
||||
|
Low birth weight |
+/- |
8/11 |
+ |
+ |
|
|
||||
|
Microcephaly |
+/+ |
11/11 |
+ |
+ |
|
|
||||
|
Short stature |
-/- |
10/11 |
+ |
+ |
|
|
||||
|
Hypotonia |
+/+ |
10/11 |
? |
+ |
|
|
||||
|
Mental retardation |
+/+ |
11/11 |
+ |
+ |
|
|
||||
|
Impaired speech |
+/+ |
10/11 |
+ |
+ |
|
|
||||
|
Motor delay |
+/+ |
10/11 |
+ |
+ |
|
|
||||
|
Epilepsy |
+/+ |
9/11 |
+ |
+ |
|
|
||||
|
Deep set eyes |
+/+ |
10/11 |
+ |
+ |
|
|
||||
|
Widely spaced teeth |
+/+ |
8/11 |
+ |
? |
|
|
||||
|
Thin bow shaped upper lip |
+/+ |
11/11 |
+ |
+ |
|
|
||||
|
Abnormality of corpus callosum |
-/- |
9/11 |
+ |
+ |
|
|
||||
|
Scoliosis |
-/+ |
2/11 |
+ |
+ |
|
|
||||
|
Ataxia |
+/+ |
0/11 |
- |
- |
|
|
||||
|
Aktas et al. Molecular Cytogenetics 2010 3:10 doi:10.1186/1755-8166-3-10 |
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