A woman carrier of two apparently unrelated reciprocal translocations: prenatal diagnosis of normal karyotype in the foetus.
Two reciprocal balanced translocations involving chromosomes 2, 9, 12, and 18 were found in the karyotype of a woman with a child showing several congenital malformations at birth. Prenatal cytogenetic diagnosis, performed when a second pregnancy occurred, showed a normal chromosome constitution in the foetus.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002871:Chromosome Banding; D002900:Chromosomes, Human, 1-3; D002903:Chromosomes, Human, 19-20; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D010641:Phenotype; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic