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Prenatal diagnosis of glycerol‐kinase deficiency associated with a DNA deletion on the short arm of the X‐chromosome
Author(s) -
Børmsen A. L.,
Hellerud C.,
Møller P.,
Søvik O.,
Berg K.
Publication year - 1987
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1987.tb03309.x
Subject(s) - glycerol kinase , amniocentesis , fetus , amniotic fluid , prenatal diagnosis , biology , microbiology and biotechnology , glycerol , dna , x chromosome , pregnancy , andrology , genetics , medicine , biochemistry , gene
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.