Sperber M A
Biol Psychiatry. 1975 Feb;10(1):27-43.
A supernumerary autosomal syndrome in the C group of submetacentric autosomes has not yet been delineated phenotypically, although cases of an extra C-group autosome have been reported. Recent technical advances (fluorescence and Giemsa banding) now permit positive identification of each autosome. The present case reports the presence of schizophrenia and organic brain syndrome in association with trisomy 8. It is the sixth case of trisomy 8 reported to date. A stress-diathesis model is used to explain the development of the psychiatric disturbances. The patient's autosomal aberration is regarded as diathetic, and the multiple congenital anomalies, surgical interventions, infections, familial, and other environmental responses as stress. This report provides further data for the phenotypic delineation of a trisomy 8 syndrome.
尽管已有关于额外一条C组常染色体病例的报道,但在亚中着丝粒常染色体C组中,一种额外常染色体综合征的表型尚未明确界定。最近的技术进展(荧光和吉姆萨显带)现在能够对每条常染色体进行确切识别。本病例报告了一名患有精神分裂症和器质性脑综合征并伴有8号染色体三体的患者。这是迄今为止报道的第六例8号染色体三体病例。采用应激-素质模型来解释精神障碍的发生发展。患者的常染色体畸变被视为素质因素,而多种先天性异常、手术干预、感染、家族及其他环境反应则被视为应激因素。本报告为8号染色体三体综合征的表型界定提供了更多数据。