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  • Title: First report of management and outcome of pregnancies associated with hereditary orotic aciduria.
    Author: Bensen JT, Nelson LH, Pettenati MJ, Block SM, Brusilow SW, Livingstone LR, Burton BK.
    Journal: Am J Med Genet; 1991 Dec 15; 41(4):426-31. PubMed ID: 1776631.
    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.
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