Narahara K
Acta Med Okayama. 1981 Nov;35(5):343-55. doi: 10.18926/AMO/31278.
A cytogenetic study was performed on 74 children with at least three major or minor congenital malformations and mental retardation, and whose phenotypes did not fit any well-defined syndrome. The chromosomes were examined routinely using banding techniques. A total of 11 patients (14.9%) was found to have a major chromosome abnormality: one patient had a sex chromosome structural abnormality and 10 patients had an autosomal structural abnormality, including 4 patients with partial trisomies, 4 patients with partial monosomies, and 2 patients with tertiary trisomies. Two of them had probable intrachromosomal duplication which would not have been identified by conventional staining alone. Familial transmission was ascertained in 5 of 10 cases in which both parents were studied. In addition, 5 patients (6.8%) were noted to have the following chromosome heteromorphisms: partial inv 1qh, inv 9qh, 9qh+, and Yqh+. These results show that chromosome abnormalities contribute much to the etiology of unclassifiable multiple malformations associated with mental retardation. Furthermore, the demonstration of subtle chromosome rearrangements by means of banding techniques provides important implications in medical practice for the diagnosis of affected patients as well as for the genetic counseling of the families.
对74名患有至少三种主要或次要先天性畸形且伴有智力发育迟缓、但其表型不符合任何明确综合征的儿童进行了细胞遗传学研究。使用显带技术对染色体进行常规检查。总共发现11名患者（14.9%）存在主要染色体异常：1名患者有性染色体结构异常，10名患者有常染色体结构异常，包括4名部分三体患者、4名部分单体患者和2名三级三体患者。其中2名患者可能存在染色体内重复，仅通过传统染色无法识别。在对双亲进行研究的10例病例中，有5例确定存在家族性遗传。此外，5名患者（6.8%）被发现有以下染色体异态性：部分1qh倒位（inv 1qh）、9qh倒位（inv 9qh）、9qh增强（9qh+）和Yqh增强（Yqh+）。这些结果表明，染色体异常在伴有智力发育迟缓的无法分类的多发畸形病因中起很大作用。此外，通过显带技术证明的细微染色体重排，对医学实践中受影响患者的诊断以及对家庭的遗传咨询具有重要意义。
