本文讨论的疾病,除少数几个以外,都是常染色体隐性遗传的,大多数不能作出产前检测及诊断。它们可分为两类:(1)淋巴和造血系统特异性缺陷,细胞的生成或功能有缺陷;(2)代谢性疾病,累及全身各类细胞,包括淋巴或造血系细胞。 The diseases discussed in this article, with a few exceptions, are autosomal recessive and most can not be tested for prenatal diagnosis. They can be divided into two categories: (1) lymphoid and hematopoietic system-specific defects, defective cell generation or function, and (2) metabolic diseases involving various types of cells throughout the body, including lymphatic or hematopoietic cells.