Prenatal diagnosis of a partial 8p trisomy.
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.
Pezzolo
A
A
Servizio di Genetica Molecolare, Istituto G. Gaslini, Genova, Italy.
Bicocchi
M P
MP
Zampatti
C
C
Cuoco
C
C
Gimelli
G
G
D000649:Amniocentesis; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D011247:Pregnancy; D014314:Trisomy