Two cases of cleft palate with 22q11.2 deletion syndrome

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  • OHNO Fumi
    First Department of Oral and Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University
  • ABE Atsushi
    First Department of Oral and Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University
  • KINOSHITA Atsutaka
    First Department of Oral and Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University
  • KATSURAGI Akiko
    First Department of Oral and Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University
  • SEKI Yasushi
    First Department of Oral and Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University
  • KURITA Kenichi
    First Department of Oral and Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University

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Other Title
  • 口蓋裂を伴った２２ｑ１１．２欠失症候群の２例
  • ショウレイ ホウコク コウガイレツ オ トモナッタ 22q11 2 ケツシツショウコウグン ノ 2レイ

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Abstract

DiGeorge syndrome (DGA), velocardiofacial syndrome (VCFS), and conotruncal anomaly face syndrome (CTAF) are frequently associated with 22q11.2 deletion syndrome. We report two cases of 22q11.2 deletion syndrome. Two patients had cleft palate, and facial dysmorphism. Fluorescence in situ hybridization (FISH) was used to show deletion of chromosome 22q11.2. Palatoplasty was performed at about two years of age with the patients under general anesthesia. The postoperative course was uneventful in both patients.

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