Matsuishi T, Yamada Y, Endo K, Sakai H, Fukushima Y
Department of Special Education, Yokohama National University, Japan.
J Intellect Disabil Res. 1996 Oct;40 ( Pt 5):478-80.
In this paper, the authors present the case of a 24-year-old female with ring 15 chromosome syndrome. Upon examination, the patient presented with severe mental retardation, dwarfism and microcephaly, along with other minor dysmorphic stigmata. We compared this case with three other adult female cases with this chromosomal aberration. As a result, the authors observed a somewhat dysharmonious profile between the level of mental retardation and behavioural findings in the four women, while sexual development and gonadal function seemed to be normal in all four cases.
在本文中，作者介绍了一名患有15号环状染色体综合征的24岁女性病例。经检查，该患者表现出严重智力发育迟缓、侏儒症和小头畸形，以及其他轻微的畸形特征。我们将该病例与另外三名患有这种染色体畸变的成年女性病例进行了比较。结果，作者观察到这四名女性在智力发育迟缓程度和行为表现之间存在某种不协调的情况，而在所有四个病例中，性发育和性腺功能似乎都是正常的。
