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

Authors
Bowling, FG Hurrion, E Bryan, J Oats, J McGill, JJ
Citation
Fg. Bowling et al., Carbohydrate-deficient glycoprotein syndrome in a newborn with an unbalanced chromosomal translocation, EUR J PED, 158(10), 1999, pp. 794-795
Citations number
6
Categorie Soggetti
Pediatrics,"Medical Research General Topics
Journal title
EUROPEAN JOURNAL OF PEDIATRICS
ISSN journal
03406199 → ACNP
Volume
158
Issue
10
Year of publication
1999
Pages
794 - 795
Database
ISI
SICI code
0340-6199(199910)158:10<794:CGSIAN>2.0.ZU;2-6
Abstract
Carbohydrate-deficient glycoprotein syndromes may occur as a primary result of distinct genetic disruption of the enzymes involved in processing the c arbohydrate 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, D21 S65-)] and with biochemical and clinical features of a carbohydrate deficie nt glycoprotein syndrome is reported. This chromosomal disruption is anothe r secondary cause of the disorder.