MULTIPLE EXOSTOSES IN A PATIENT WITH T(8-11)(Q24.11-P15.5)

被引:24
作者
OGLE, RF
DALZELL, P
TURNER, G
WASS, D
YIP, MY
机构
[1] PRINCE WALES HOSP,CYTOGENET & CELL BIOL UNIT,RANDWICK,NSW 2031,AUSTRALIA
[2] PRINCE WALES CHILDRENS HOSP,DEPT MED GENET,SYDNEY,AUSTRALIA
[3] ROYAL HOSP WOMEN,DEPT OBSTET & GYNAECOL,SYDNEY,AUSTRALIA
关键词
D O I
10.1136/jmg.28.12.881
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The occurrence of multiple exostoses in a carrier of a balanced translocation t(8;11) (q24.11;p15.5) is described. The breakpoint on chromosome 8 is at proximal q24.1 within the critical region reported for Langer-Giedion syndrome.
引用
收藏
页码:881 / 883
页数:3
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