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.
MeSH terms
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Abnormalities, Multiple / genetics
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Adult
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Chromosome Aberrations
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Chromosomes, Human, Pair 11
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Chromosomes, Human, Pair 22
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Chromosomes, Human, Pair 5
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Female
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Genes, Recessive
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Humans
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Infant
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Infant, Newborn
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Male
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Multienzyme Complexes / deficiency
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Orotate Phosphoribosyltransferase / deficiency
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Orotic Acid / urine*
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Orotidine-5'-Phosphate Decarboxylase / deficiency
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Pedigree
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Pregnancy
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Pregnancy Complications / urine*
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Translocation, Genetic
Substances
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Multienzyme Complexes
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Orotic Acid
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uridine 5'-monophosphate synthase
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Orotate Phosphoribosyltransferase
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Orotidine-5'-Phosphate Decarboxylase