PMC4969236_01
Diagnostic analyses. A: The G-banding test showed the patient to have a normal 46, XX karyotype but a deletion of the most terminal portion of the short arm of chromosome 4. B: Fluorescence in situ hybridization (FISH) analysis identified a deletion of the 4p subtelomere in chromosome 4p15.3. The Wolf-Hirschhorn syndrome (WHS) critical region (WHSCR) is shown in red, and the control is shown in green.
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Fluorescence in situ hybridization (FISH) demonstrated a deletion of the 4p subtelomere, specifically in chromosome 4p15.3 (Fig. 1).
Electroencephalographic (EEG) data. A: At age seven months, the patient's interictal EEG demonstrated a clear hypsarrhythmic pattern. B: At age four years, the EEG had returned to normal after lamotrigine polytherapy.
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The interictal EEG was hypsarrhythmic (Fig. 2A). At age 4 years and 6 months, the EEG demonstrated epileptic discharges consisting of spikes or sharp waves were no longer present (Fig. 2B).