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    Am J Med Genet. 1991 Dec 15;41(4):426-31.

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

    Bensen JT, Nelson LH, Pettenati MJ, Block SM, Brusilow SW, Livingstone LR, Burton BK.

    Source

    Department of Neurology Bouman Gray School of Medicine of Wake Forest University, Winston-Salem, North Carolina 27157.

    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.

    PMID:
    1776631
    [PubMed - indexed for MEDLINE]

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