2 CASES OF TRISOMY 12P DUE TO RCPT(12 - 21)(P11 - P11) INHERITED THROUGH 3 GENERATIONS

被引:24
作者
PARSLOW, M [1 ]
CHAMBERS, D [1 ]
DRUMMOND, M [1 ]
HUNTER, W [1 ]
机构
[1] ROYAL CHILDRENS HOSP,PARKVILLE 3052,VICTORIA,AUSTRALIA
关键词
D O I
10.1007/BF00321017
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Two cases of trisomy 12p due to a familial translocation t(12;21) (p11;p11) inherited through three generations are presented. The clinical features of both affected individuals are consistent with those previously reported. Study of the NORs by silver staining showed translocation of the NOR from chromosome 21 onto the der(12) and suggested that the activity of this site has been suppressed in some carriers. © 1979 Springer-Verlag.
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页码:253 / 260
页数:8
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