A possible mosaic form of delayed centromere separation and aneuploidy.
On average, a "normal" centromere separation sequence was seen in 3 neonates with trisomy 18 and in their parents. When evaluating individual mitoses, unusually late separating chromosomes 18 were found in a few cells of one of the parents in each family. A possible germline mosaicism of delayed separation in the parent may account for trisomy in the offspring.
Méhes
K
K
Department of Paediatrics, University Medical School of Pécs, Hungary.
Kosztolányi
G
G
D000782:Aneuploidy; D002503:Centromere / Q000502:physiology*; D002871:Chromosome Banding; D002887:Chromosomes, Human, Pair 18; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D012016:Reference Values; D014314:Trisomy