Triploid/diploid mosaicism (69XXY/46XX) presenting as severe early onset preeclampsia with a live birth: placental and cytogenetic features.
Triploid/diploid mosaicism was diagnosed following karyotyping of an infant with musculo-skeletal abnormalities delivered because of severe preeclampsia. An area of the placenta appeared unusual with histology suggestive of trophoblastic abnormality. The importance of detailed histopathological examination and ploidy and flow cytometry studies where diagnostic uncertainty exists are highlighted.
Vatish
M
M
Department of Obstetrics and Gynaecology, University Hospitals of Coventry and Warwickshire, Clifford Bridge Road, Coventry CV2 2DX, UK.
Sebire
N J
NJ
Allgood
C
C
McKeown
C
C
Rees
H C
HC
Keay
S D
SD
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002585:Cesarean Section; D002869:Chromosome Aberrations; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D003582:Cytogenetics; D004171:Diploidy; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009030:Mosaicism / Q000235:genetics*; D011123:Polyploidy; D011225:Pre-Eclampsia / Q000175:diagnosis / Q000235:genetics*; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D018570:Risk Assessment; D012720:Severity of Illness Index