Table 1 Clinical findings of patients with 1q deletion.
From: Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair
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 | - | - |