title: Prenatal diagnosis of glycerol-kinase deficiency associated with a DNA deletion on the short arm of the X-chromosome.
abstract: Amniocentesis was performed in a woman who previously had given birth to a boy who died at 12 months of age with a diagnosis of glyceroluria and adrenal insufficiency. A high amount of glycerol (9.0 standard deviations above mean for controls) was found in the amniotic fluid. Enzyme activity of glycerol-kinase (ATP:glycerol-3-phosphotransferase, EC 2.7.1.30) in the cultured amniotic fluid cells was very low. The pregnancy was terminated and a male fetus was aborted. Examinations of DNA isolated from the fetus did demonstrate deletions of two out of 16 DNA probes mapping to the short arm of the X-chromosome. The probes failing to hybridize to DNA from the fetus were C7 (DXS28) and L1.4 (DXS68), both mapping to Xp21.3 and located terminal to the Duchenne locus.
mesh_terms: D000028:Abortion, Induced; D000328:Adult; D000649:Amniocentesis; D002872:Chromosome Deletion; D005260:Female; D005991:Glycerol Kinase / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D010770:Phosphotransferases / Q000172:deficiency*; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome / Q000648:ultrastructure*
chemical_list: D010770:Phosphotransferases; D005991:Glycerol Kinase