口蓋裂を伴った22q11.2欠失症候群の2例

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タイトル別名
  • Two cases of cleft palate with 22q11.2 deletion syndrome
  • 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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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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