Partial deletion of the short arm of chromosome 20: 46,XX,del(20)(p11)/46,XX mosaicism
Partial deletion of the short arm of chromosome 20: 46,XX,del(20)(p11)/46,XX mosaicism
复制标题
20号染色体短臂部分缺失：46,XX,del(20)(p11)/46,XX嵌合体
DOI：
10.1111/j.1399-0004.1988.tb03420.x
复制
发表时间：
1988
影响因子：
3.5
通讯作者：
P. Franceschini
中科院分区：
文献类型：
--
作者：
M. Silengo;G. L. Bell;M. Biagioli;P. Franceschini
A 46,XX/46,XX,del(20)(p11) mosaicism was identified in a 10‐month‐old female infant with multiple congenital anomalies, development retardation and failure to thrive. The 20p partial deletion was observed in 50% of the cells examined. Both parents had normal phenotype and karyotype. Only four other patients with partial 20p deletion are known and they are not mosaics. Their clinical findings are similar to those of our patient; in particular, they share anomalies of the vertebral column such as segmentation errors and “butterfly‐shaped” vertebrae.
