[Distinctive features of euploid-aneuploid mosaicisms diagnosed by amniocentesis (author's transl)].
Although infrequent, mosaicism in amniotic fluid may lead to a questionable diagnosis. From a personal case and a general review of the literature the authors conclude that euploid-aneuploid mosaicism must be strongly considered as real if it is expressed in more than one clone, in more than one flask, if it is confirmed by a second amniocentesis and if the abnormal cell line is caused by the loss or acquisition of a chromosome compatible with a known pattern or syndrome. Other patterns documented in such a material have to be considered on their own merits as they may or may not be confirmed after birth.
D000649:Amniocentesis; D000653:Amniotic Fluid / Q000166:cytology; D000782:Aneuploidy; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D011003:Ploidies; D011247:Pregnancy; D012016:Reference Values
Caracteres distinctifs des cas de mosaïcisme diagnostiqués par l'amniocentèse à l'usage du conseil génétique.