Marion R W, Garcia D M, Karasik J B
Department of Pediatrics, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY 10467.
Am J Med Genet. 1993 May 15;46(3):284-7. doi: 10.1002/ajmg.1320460309.
The cause of the Rubinstein-Taybi syndrome (RTS), a multiple congenital anomalies/mental retardation (MCA/MR) syndrome first described in 1963, remains obscure. Recently, a deletion of chromosomal material at 16p13.3 has been found in some patients with the disorder, but no such deletion can be identified in the majority of affected individuals. Although the disorder has been well documented to be concordant in at least 7 monozygotic twin pairs and in one non-twin sib pair, only one clear-cut case of parent-to-child transmission has been reported previously. We present here a mother and daughter, both of whom appear to be affected with RTS, strongly suggesting either autosomal or X-linked dominant transmission. The paucity of previous cases of parent-to-child transmission may be related to either decreased fertility or decreased fitness in affected individuals.
鲁宾斯坦-泰比综合征（RTS）是一种于1963年首次被描述的多发性先天性异常/智力障碍（MCA/MR）综合征，其病因仍不明确。最近，在一些患有该疾病的患者中发现了16p13.3染色体物质的缺失，但在大多数受影响个体中未发现此类缺失。尽管该疾病已被充分证明在至少7对同卵双胞胎和一对非双胞胎同胞中是一致的，但此前仅报道过一例明确的亲子传播病例。我们在此报告一位母亲和女儿，她们似乎都患有RTS，这强烈提示可能存在常染色体或X连锁显性遗传。此前亲子传播病例的稀少可能与受影响个体的生育能力下降或健康状况下降有关。
