A case report of 46,XX,del(21)(q22) de novo deletion associated with Imerslund-Grasbeck syndrome

被引：0
作者：
Celep, F
Karaguzel, A
Aynaci, FM
Erduran, E
机构：
[1] KARADENIZ TECH UNIV,FAC MED,DEPT MED BIOL,TRABZON,TURKEY
[2] KARADENIZ TECH UNIV,FAC MED,DEPT PEDIAT,TRABZON,TURKEY
来源：
CLINICAL GENETICS | 1996年 / 50卷 / 04期
关键词：
del(21)(q22); Imerslund-Grasbeck syndrome;
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We describe a 2-year-old female patient who had megaloblastic anaemia caused by selective vitamin B-12 malabsorption (Imerslund-Grasbeck syndrome) and del (21)(q22). To our knowledge, this is the first observation of Imerslund-Grasbeck syndrome associated with del(21)(q22) in the literature.
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页码：248 / 250
页数：3
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