家族性9号染色体短臂三体与脊髓性肌萎缩症：临床、细胞遗传学及胚胎学研究结果

The pre- and postnatal clinical, cytogenetic and embryological findings in a family suffering from trisomy 9p and spinal muscular atrophy are presented. The clinical picture of the "trisomy 9p" -syndrome is delineated. Concurrence of autosomal aberration and spinal muscular atrophy, probably of the Werdnig-Hoffmann type, is discussed.

本文介绍了一个患有9号染色体短臂三体综合征和脊髓性肌萎缩症的家庭的产前和产后临床、细胞遗传学及胚胎学研究结果。文中描述了“9号染色体短臂三体综合征”的临床表现，并讨论了常染色体畸变与可能为韦尼克-霍夫曼型的脊髓性肌萎缩症并发的情况。