First report of management and outcome of pregnancies associated with hereditary orotic aciduria.
Am J Med Genet
; 41(4): 426-31, 1991 Dec 15.
Article
en En
| MEDLINE
| ID: mdl-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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Banco de datos:
MEDLINE
Asunto principal:
Ácido Orótico
/
Complicaciones del Embarazo
Tipo de estudio:
Prognostic_studies
/
Risk_factors_studies
Límite:
Adult
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Female
/
Humans
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Infant
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Male
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Newborn
/
Pregnancy
Idioma:
En
Año:
1991
Tipo del documento:
Article