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Carbohydrate-deficient glycoprotein syndrome in a newborn with an unbalanced chromosomal translocation
F G Bowling1, E Hurrion, J Bryan
1Mater Mother's Hospital, South Brisbane Q4101, Australia, Fbowling@Mater.org.au
European Journal of Pediatrics
|September 15, 1999
Abstract
Unlabelled:
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.