20号染色体短臂缺失。
Deletion of the short arms of chromosome 20.
作者信息
Kalousek D K, Thérien S
出版信息
Hum Genet. 1976 Sep 10;34(1):89-92. doi: 10.1007/BF00284443.
PMID:965012
Abstract
A 46, XX, del(20) (p11) karyotype (Paris Conference, 1971) was identified in an 11-month-old French-Canadian girl with a dysmorphic syndrome, multiple congenital anomalies, psychomotor and growth retardation. Both parents had normal phenotype and karyotype.
摘要
在一名11个月大的法裔加拿大女孩身上发现了一种核型为46, XX, del(20)(p11)(巴黎会议，1971)的情况，该女孩患有畸形综合征、多种先天性异常、精神运动和生长发育迟缓。其父母的表型和核型均正常。
Zotero 插件