Prenatal diagnosis of a partial 8p trisomy

Autor: A, Pezzolo, M P, Bicocchi, C, Zampatti, C, Cuoco, G, Gimelli
Rok vydání: 1990
Předmět:
Zdroj: Prenatal diagnosis. 10(8)
ISSN: 0197-3851
Popis: 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;p11). 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.
Databáze: OpenAIRE