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5q三体综合征少见,至今发现不到20例。本文报告一例5(q~(1)～q~(tr))三体引起的多发畸型儿童,其母携带5和14号染色体间的平衡易位。在文献中,5个家庭中7例伴有相似的重复,表现不同的联合易位。病例女,3岁,系英籍母亲和德籍父亲第二次结婚所生第四胎。足月产,出生体重2200g,身长43cm,头围32cm,上睑裂轻度倾斜,眼裂下斜,明显的脐疝和胸骨缘有2/6的喷射性收缩期杂音。心电图正常,脑片示心影轻度扩大和肺血增多,超声心动图示动脉导管未闭。生后不久染色体检查发现有一个与21三体在大小和形态上相似的额外染色体,但中央
5q trisomy syndrome rare, so far found less than 20 cases. This article reports a case of children with multiple deformities caused by 5 (q ~ (1) ~ q ~ (tr)) trisomy, whose mothers carry a balanced translocation between chromosomes 5 and 14. In the literature, 7 of 5 families were accompanied by similar repeats and showed different combined translocations. Female, 3 years old, was the fourth child born of a second marriage between a British mother and a German father. Full-term birth, birth weight 2200g, body length 43cm, head circumference 32cm, mild upper eyelid tilt incision under the eye, the obvious umbilical hernia and sternal margin of 2/6 jet systolic murmur. Electrocardiogram normal brain slices showed mild expansion of heart shadow and increased pulmonary blood flow, echocardiography patent ductus arteriosus. Shortly after birth, chromosomal examination revealed an extra chromosome similar in size and morphology to trisomy 21, but the central