Byatt S A, Baker E, Richards R I, Roberts C, Smith A
Cytogenetics Laboratory, Royal North Shore Hospital, St. Leonards, Sydney, Australia.
Am J Med Genet. 1997 Jun 27;70(4):357-60.
We present a 34-year-old man with an unbalanced translocation between the long arms of chromosome 4 and chromosome 11. He had manifestations of monosomy 11(q23)--minor facial anomalies, abnormal head shape, cryptorchidism; trisomy 4(q32)--hirsutism, renal disease; and manifestations attributable to both imbalances--heart disease, musculoskeletal anomalies, and mental retardation. FISH studies showed that the chromosome 11q23.3 translocation breakpoint was distal to the rare folate sensitive fragile site (FRA11B). The patient is the oldest reported with both imbalance of 4q+ and 11q-.
我们报告一名34岁男性，其4号染色体长臂与11号染色体长臂之间存在不平衡易位。他有11号染色体单体（q23）的表现——轻微面部异常、头型异常、隐睾；4号染色体三体（q32）的表现——多毛症、肾病；以及两种不平衡共同导致的表现——心脏病、肌肉骨骼异常和智力发育迟缓。荧光原位杂交（FISH）研究表明，11号染色体q23.3易位断点位于罕见的叶酸敏感脆性位点（FRA11B）远端。该患者是报道中年龄最大的同时具有4号染色体长臂增加和11号染色体长臂减少不平衡的病例。
