First report of management and outcome of pregnancies associated with hereditary orotic aciduria

J. T. Bensen*, L. H. Nelson, M. J. Pettenati, S. M. Block, S. W. Brusilow, L. R. Livingstone, B. K. Burton

*Corresponding author for this work

Research output: Contribution to journalArticle

5 Scopus citations

Abstract

Two pregnancies in a 25-year-old woman with hereditary orotic aciduria who was managed prenatally on uridine therapy are described. The first pregnancy resulted in an infant with multiple congenital anomalies and a 47,xx,inv(4)(p12q25), +der(22)t(11;22)(p23;q11) karyotype. The proposita was found to be a carrier of a de novo 11;22 translocation and a pericentric inversion of chromosome 4. Subsequently, several carriers of orotic aciduria in this family were identified with the inverted chromosome 4. The second pregnancy resulted in a normal male with an inverted chromosome 4.

Original languageEnglish (US)
Pages (from-to)426-431
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume41
Issue number4
DOIs
StatePublished - Jan 1 1991

Keywords

  • autosomal recessive inheritance
  • inversion chromosome 4
  • orotidine
  • translocation 11; 22
  • uridine

ASJC Scopus subject areas

  • Genetics(clinical)

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    Bensen, J. T., Nelson, L. H., Pettenati, M. J., Block, S. M., Brusilow, S. W., Livingstone, L. R., & Burton, B. K. (1991). First report of management and outcome of pregnancies associated with hereditary orotic aciduria. American Journal of Medical Genetics, 41(4), 426-431. https://doi.org/10.1002/ajmg.1320410408