摘要
为了对视网膜母细胞瘤（RB）的遗传研究和遗传咨询。本文对1960～1995年临床病理确诊的RB183例进行家系调查，其中家族遗传性RB13例，分布于11个家系中，家族性RB的发病率为7．1％。遗传方式以隐性嵌合体型最多见，有10个家系，占90.91％，其次为直接遗传1个家系，占9.09％。随访到单眼散发性RB患者的后代14人，除2人因腹泻死亡外，其余经检查未发现RB病变。并讨论了家族遗传性RB的发病率、临床特点及遗传咨询问题。
To study the pattern and consulting service of inherifance of retinoblastoma(RB), 183 cases of RB by pathological diagnoses were investigated in pedigress during 1960 - 1995. There were 13 members from 11 families with familiar RB (7- 1 %)- The pattern of inherifancc were recessive mosaic (90. 91 % ) and direct inherifance(9. 09% ). All 14 posterity of inherifance simple eye RB followed up, except for 2 cases died of diarrhea, did not discover RB affer examination. The prevaIence and clinical features and consulting service about inheritable RB were analysised.
出处
《重庆医学》
CAS
CSCD
1997年第4期195-196,共2页
Chongqing medicine
