Prenatal diagnosis of a partial 8p

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Abstract
The index patient is a female fetus in which prenatal diagnosis of 8p trisomy was established after amniocentesis at 16 weeks of gestation. This fetus was the unbalanced product of a maternal translocation of 5q/8p (karyotype: 46,XX,t(5;8)(q35;pl 1). Internal malformations include an anomalous lobature of the right lung, a little and high atrio‐ventricular communication, and an anomaly in the number and shape of the aortic semilunar valves. The possible relationship between the phenotype and the chromosomal abnormality is briefly discussed.