眼多発奇形を認めた染色体異常（モザイク）の1例

A case of chromosomal abnormality (mosaic) with multiple ocular malformations

　精神運動発達遅滞，けいれんにて小児科に入院中の患児で，非常にまれな染色体構造をもち，眼多発奇形を認めた1例を報告する．

　症例　は2歳男児，37週2,600g正常分娩．黄疸の遷延のため小児科にて精査，全身的に外表奇形，臓器奇形を認めなかったが眼科的に両眼隔離と瞼裂縮小，眼振，小眼球，小角膜，瞳孔膜遺残，球状水晶体，乳頭脈絡膜コロボーマを両眼に認めた．染色体分析の結果，父母は正常，症例には45,XY，−22，−14，＋der （22）（22qter→22p13：：14q112→14qter）の核型を79％認め，45,XY，−1，−14，＋der （1）（1q ter→1p 363：：14q 11.2→14qter）を21％に認めた．この奇形はこの染色体異常に特異的なものではないが，染色体異常による眼発生異常と考えられた．

A male infant, weighing 2, 600g and born after an uneventful 37-week pregnancy, manifested mul-tiple ocular malformations, mental retardation, con-vulsion an unusual chromosomal abnormality. The ocular manifestations included hypertelorism, ble-pharophimosis, nystagmus, microphthalmia, micro-cornea, persistent pupillary membrane, spheropha-kia, high myopia and coloboma of the optic disc and the choroid. Sustained jaundice, mental retarda-tion and convulsion were the chief systemic involve-ments. High-resolution, ysis showed a unique mosaic pattern : 79% with 45, XY, -22, -14, + der (22) (22qter-22p13 :: 14q11.2-14qter), and 21% with 45, XY,-1, -14,+ der (1) (1qter- 1p36.3 :: 14q11.2- 14qter) Both the parents manifested normal chromosal pattern. The observed developmental disorders appeared to be related to the chromosomal abnor-malities, though not in a well-defined, specific way.