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颅面畸形中心的基因服务。

Genetic services at a center for craniofacial anomalies.

作者信息

Rollnick B R, Pruzansky S

出版信息

Cleft Palate J. 1981 Oct;18(4):304-13.

PMID:7026087
Abstract

Advances in medical genetics and syndrome delineation have demonstrated that many clinical entities are an expression of genetic variability. Assessment of the population at the Center for Craniofacial Anomalies of the University of Illinois Medical Center at Chicago provided a measure of the need for genetic diagnosis and counseling. While it is recognized that this experience is not necessarily representative of that prevailing at other centers, this report provides a basis for interinstitutional comparisons. Public recognition of the need and consequent demand for genetic services is increasing. The inevitable conclusion is that genetic evaluation and counseling are essential services at a center for craniofacial anomalies.

摘要

医学遗传学和综合征描述方面的进展表明,许多临床病症是基因变异的表现形式。对芝加哥伊利诺伊大学医学中心颅面畸形中心的人群评估,提供了一种对基因诊断和咨询需求的衡量方法。虽然人们认识到这一经验不一定代表其他中心的普遍情况,但本报告为机构间比较提供了一个基础。公众对基因服务需求的认识以及随之而来的需求正在增加。不可避免的结论是,基因评估和咨询是颅面畸形中心的基本服务。

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