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Craniofacial abnormalities, developmental delay, hypotonia, learning disability, hearing loss, heart problems and seizures.
Indications for Testing
(inc. hypertrichotic osteochondrodysplasia) CEB108/T7 and D1Z2 Terminal and interstitial deletions detected.
5-10 ml blood sample. 1p36 FISH (Fluorescence In Situ Hybridization). The detection rate of FISH analysis for this disorder is approximately 95%.
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