1963年,Lele等报道1例智力障碍和生长迟缓的患者且伴有视网膜母细胞瘤。该症是由于D组某染色体长臂部分缺失引起的。随后,又有100多例相同病症的报道,证实缺失的染色体为13号染色体[1]。这些病例的表型多变,但有一些畸形可用来鉴别此症。短臂或长臂部分缺失的13号环状染色体的患者也有相似的症状。以下为我室在2009年5月检出一例13q-综合征患者。 In 1963, Lele et al reported a case of mental retardation and growth retardation in patients with retinoblastoma. The disease is due to a group of D chromosome deletion caused by a long arm. Subsequently, there are more than 100 cases of the same reported, confirmed that the missing chromosome is chromosome 13 [1]. The phenotype of these cases varies, but some deformities can be used to identify the disease. Patients with short arm or long loop 13-missing circular chromosome 13 also have similar symptoms. The following is my room in May 2009 detected a 13q-syndrome patients.