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

页码：794 / 795

页数：2

共 6 条

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