摘要
我院对几年来遗传咨询及住院疑有染色体异常者６９５例进行了染色体检查。检出异常核型７０例，异常率１０．１％。７０例异常核型中常染色体异常４８例，占异常核型的６８．６％，性染色体异常２２例，占异常核型的３１．４％。异常核型涉及除５、１０、１２、１７、１９、２０、２２号以外的１７条染色体，共计２７种核型。本文对额外小染色体来源、携带者的表型及平衡易位是否产生遗传效应等进行了讨论。
A cytogenetics study has been performed in 618 cases suspectable having chromosome abnormalities during genetic counseltation and inpatient. We found that 24 structural aberration,29numerical aberration and 2 sex differentiation aberration. As well as male pseudohermaphroditism,were found case. So the abnomality rate is 8.2%. 38 cases has autosomal aberration and 18 cases has sex chromosome aberration. Karyotype aberration involves chromosome No:1、4、6、7、8、9、10、 13、 14、 22、X、Yetc , about 25 kinds of karyotype in total.
出处
《中国优生与遗传杂志》
1995年第2期48-49,62,共3页
Chinese Journal of Birth Health & Heredity
