染色体22q11欠失症の臨床

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タイトル別名
  • サイシュウ コウギ センショクタイ 22q11 ケツシツショウ ノ リンショウ
  • Clinical Study of the Deletion of Chromosome 22q11

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The deletion of chromosome 22q11 causes conotruncal anomaly face syndrome. This syndrome was recognized in our Department since mid 1970s. Its chromosomal base was established in 1992. Since then, we have identified 200 patients with fluorescence in-situ hybridization. The most prevalent disease associated with the deletion is tetralogy of Fallot. Tetralogy with the deletion is characteristically associated with anomalies of the aortic arch, ductus arteriosus and pulmonary artery. The prevalence of the deletion is especially high in patients with type B interruption of the aortic arch, tetralogy of Fallot with pulmonary atresia and major aorto-pulmonary collateral arteries, and truncus arteriosus. Mild but progressive mental retardation is common. Schizophrenia develops in some 15% of the adolescent patients.

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