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Case Reports
. 1989 Jun;37(2):155-62.

[Prenatal diagnosis of X-linked adrenal hypoplasia associated with glycerol kinase deficiency]

[Article in French]
G Malpuech  1 , B Dastugue, G Giraud, P Jouanel, P Vanlieferinghen, H Carla
Affiliations
  • PMID: 2545811
Case Reports

[Prenatal diagnosis of X-linked adrenal hypoplasia associated with glycerol kinase deficiency]

[Article in French]
G Malpuech et al. J Genet Hum. 1989 Jun.

Abstract

We report a case of X-linked adrenal hypoplasia associated with glycerol kinase deficiency in a boy. Cytogenetic studies and X-linked probes did not demonstrate deletion at Xp21. These probes are not informative enough to be used in prenatal diagnosis. This diagnosis was achieved by glycerol concentration assay in amniotic fluid and by maternal plasma estriol assay.

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