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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 - -