6pトリソミー症候群の1例

A case of partial 6p trisomy

（26C2-3）　異常な顔貌，心雑音，股関節脱臼，体重増加不良などで染色体異常が証明された生後3か月の女児が眼科に紹介された。前額部の隆起青後頭部扁平，球状鼻，耳介低位付着，小口症があり，生後1年の時点で，全身に発達遅延と肺動脈弁狭窄，両眼に眼瞼下垂，眼瞼狭小，眼球上転障害，小眼球，小角膜，虹彩低色素，片眼の虹彩角膜癒着などがあった。G染色法による染色体分析で，核型は［46,XX，6q＋］であり，6p21を切断点とする6pトリソミーであった。本症としては眼所見が多彩であった。

Chromosomal anomaly was detected in a female infant with abnormal head, cardiac disorder and luxated hip joint. At the age of one year, she manifested, besides arrested growth and stenosis of pulmonary artery, protruded forehead, globular nose, low insertion of earlobes and microstomia. Both eyes showed blepharoptosis, blepharophimosis, restricted elevation of eyeballs, microphthalmos, microcornea and hypopigmentation of the iris. The left eye showed anterior synechia. Chromosome analysis by G staining showed the karyotype to be [46, XX, 6q+]. She was diagnosed as 6p trisomy with 6p21 as the breakpoint. This case was unique in showing multiple manifestations of the eye.