Search for deletion 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, Konstantin Miller*

*Korrespondierende/r Autor/-in für diese Arbeit
7 Zitate (Scopus)

Abstract

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 decribed. 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.

OriginalspracheEnglisch
ZeitschriftInternational Journal of Oral and Maxillofacial Surgery
Jahrgang32
Ausgabenummer2
Seiten (von - bis)198-200
Seitenumfang3
ISSN0901-5027
DOIs
PublikationsstatusVeröffentlicht - 2003

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