A near false-negative finding of mosaic trisomy 21--a cautionary tale.
We report the finding of a mosaic trisomy 21 restricted to the long-term culture of chorionic villi and to one amniotic fluid culture which, if interpreted according to the standard rules for the authentication of mosaicism, would have resulted in a false-negative result. The definitive diagnosis of mosaic Down syndrome was eventually confirmed by cordocentesis and by post-abortion fibroblast cultures.
Beverstock
G C
GC
Department of Clinical Cytogenetics, Medical Centre Leiden University, The Netherlands. gb@ruly46.Medfac.Leidenuniv.nl
Hansson
K
K
Helderman-van den Enden
A T
AT
Bröcker-Vriends
A
A
Klumper
F
F
Bartelings
M
M
Dobbe-van Meerendonk
W
W
Roosmalen
J V
JV
Kolkman
P H
PH
Kanhai
H H
HH
D000328:Adult; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000166:cytology; D002478:Cells, Cultured; D015193:Chorionic Villi Sampling; D017218:Cordocentesis; D004314:Down Syndrome / Q000175:diagnosis*; D005188:False Negative Reactions; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009030:Mosaicism; D011247:Pregnancy