两例11号环状染色体病例。
Two cases of ring chromosome 11.
作者信息
Romain D R, Gebbie O B, Parfitt R G, Columbano-Green L M, Smythe R H, Chapman C J, Kerr A
出版信息
J Med Genet. 1983 Oct;20(5):380-2. doi: 10.1136/jmg.20.5.380.
Two cases of ring chromosome 11 are reported. Both had mental retardation, microcephaly, and short stature. High resolution G banding in case 1 showed no visible loss of chromatin, the karyotype being assessed as 46,XX,r(11) (p15 X 4q2 X 5). In case 2, a Wilm's tumour developed at 8 months and the child died at 18 months. Cytogenetic analysis by Q banding demonstrated minimal chromosome deletion and the karyotype was considered to be 46,XY,r(11) (p15q25).
报告了两例11号环状染色体病例。两例均有智力发育迟缓、小头畸形和身材矮小。病例1的高分辨率G显带显示无可见的染色质丢失，核型评估为46,XX,r(11)(p15X4q2X5)。病例2在8个月时发生了肾母细胞瘤，患儿于18个月时死亡。通过Q显带进行的细胞遗传学分析显示染色体缺失极少，核型被认为是46,XY,r(11)(p15q25)。
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