Carlson E A, Letson R D, Ramsay N K, Desnick R J
Am J Ophthalmol. 1979 Apr;87(4):449-59. doi: 10.1016/0002-9394(79)90230-7.
Of 55 families in which one or more patients with retinoblastoma were treated, five of these families involved more than one patient. The remaining 50 were sporadic cases. Two of the five familial cases involved collateral inheritance and three involved direct inheritance. Factors important for genetic counseling included the time of onset of first symptoms, the age of the father, the occurrence of a second primary tumor, unilateral vs bilateral involvement, and the cytogenetic analysis of the patient's chromosomes. Additionally, mutational mosaicism was considered as a cause for sporadic cases of retinoblastoma. Use of the risk figures derived from this study should provide more precise genetic counseling for parents, siblings, and patients with retinoblastoma.
在55个有一名或多名视网膜母细胞瘤患者接受治疗的家庭中，其中5个家庭涉及不止一名患者。其余50个为散发性病例。5个家族性病例中有2个涉及旁系遗传，3个涉及直系遗传。对遗传咨询重要的因素包括首发症状出现的时间、父亲的年龄、第二原发性肿瘤的发生、单侧与双侧受累情况以及患者染色体的细胞遗传学分析。此外，突变镶嵌现象被认为是视网膜母细胞瘤散发病例的一个原因。使用从本研究得出的风险数据应为视网膜母细胞瘤患者的父母、兄弟姐妹及患者提供更精确的遗传咨询。
