Carbohydrate-deficient glycoprotein syndrome in a newborn with an unbalanced chromosomal translocation

被引：1
|
作者：
Bowling, FG [1 ]
Hurrion, E [1 ]
Bryan, J [1 ]
Oats, J [1 ]
McGill, JJ [1 ]
机构：
[1] Mater Mothers Hosp, S Brisbane, Qld 4101, Australia
来源：
EUROPEAN JOURNAL OF PEDIATRICS | 1999年 / 158卷 / 10期
关键词：
carbohydrate-deficient glycoprotein syndrome chromosomal translocation; neonate;
D O I：
10.1007/s004310051207
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
Carbohydrate-deficient glycoprotein syndromes may occur as a primary result of distinct genetic disruption of the enzymes involved in processing the carbohydrate moeities of glycoproteins. They may also occur due to a number of secondary defects in glycosylation. Conclusion A female infant with an unbalanced chromosomal translocation [46,XX,der(21)t(17;21) (p13.1;q22.11)mat.ish der(21)t(17;21) (D17S375 x 3, D21S65-)] and with biochemical and clinical features of a carbohydrate deficient glycoprotein syndrome is reported. This chromosomal disruption is another secondary cause of the disorder.
引用
收藏
页码：794 / 795
页数：2
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