Prenatal diagnosis of mosaicism for partial trisomy 8: a case report including fetal pathology.
A case of prenatally diagnosed partial trisomy 8 is described. The 'syndrome' is associated with skeletal and cardiac anomalies, as well as hepatic calcification. Differing proportions of 47,XY, +der(8) and 46 XY were present in the different fetal tissues sampled. The highest proportion of 47,XY,+der(8) cells was found in the placenta.
Jay
A
A
Regional Cytogenetics Laboratory, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, U.K.
Kilby
M D
MD
Roberts
E
E
Brackley
K
K
Platt
C
C
McHugo
J
J
Davison
E V
EV
D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities*; D002114:Calcinosis; D002898:Chromosomes, Human, Pair 8; D005260:Female; D005318:Fetal Heart / Q000002:abnormalities*; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism / Q000175:diagnosis*; D011296:Prenatal Diagnosis / Q000379:methods*; D013577:Syndrome; D014314:Trisomy