Diploid-triploid mosaicism: delineation of the syndrome.
Two unrelated infants with multiple anomalies and diploid-triploid mosaicism are reported. A comparison of their clinical features with those of twelve published reports with 2n/3n karyotype is provided. The data reveal that 2n/3n mosaicism is a clinically recognizable syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D004171:Diploidy; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D011123:Polyploidy; D013577:Syndrome