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


CONCLUSIONS
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.
Bowling
F G
FG
Mater Mother's Hospital, South Brisbane Q4101, Australia, Fbowling@Mater.org.au
Hurrion
E
E
Bryan
J
J
Oats
J
J
McGill
J J
JJ
D018981:Congenital Disorders of Glycosylation / Q000235:genetics* / Q000378:metabolism; D017809:Fatal Outcome; D005260:Female; D006023:Glycoproteins / Q000097:blood; D006801:Humans; D007231:Infant, Newborn; D014178:Translocation, Genetic
D006023:Glycoproteins