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Int. J. Oral and Maxillofacial Surgery, 32, 198- 200
2003

Search for deleteion 22q11.2 in interphase nuclei of buccal mucosa of patients ascertained by isolated cleft palate: a new diagnostic approach

N. Shouman, B. Pabst, M. Arslan-Kirchner, A. Eckardt, R. Schönweiler, M. Ptok, Y. Mehraein, J. Schmidtke, K. Miller

A new approach for the detection of chromosome deletion 22q11.2 in interphase nuclei from buccal mucosa cells obtained by a non-invasive procedure is described. FISH analysis has been performed on samples from a group of 101 patients that presented consecutively for speech therapy and/or surgical correction of cleft palate. A normal result has been obtained in 98 patients; a deletion 22q11.2 was present in three patients (2.8%) with cleft palate.

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