Mitotic disturbance associated with mosaic aneuploidies.
The association of various unsystematic aneuploidies with premature centromere division (PCD) was observed in a patient with conspicuous clinical features and combined immunodeficiency. Trisomies and monosomies of almost all autosomes and gonosomal aberrations were found separately or in combination in a majority of the proband's lymphocytes and fibroblasts. The chromosome number varied from 44 to 50. A high proportion of the metaphases showed PCD or had the appearance of C-anaphases. These findings probably represent a new mutant affecting mitosis and causing mosaic aneuploidies.
Miller
K
K
Abteilung Humangenetik, Medizinische Hochschule, Hannover, Federal Republic of Germany.
Müller
W
W
Winkler
L
L
Hadam
M R
MR
Ehrich
J H
JH
Flatz
S D
SD
D000782:Aneuploidy; D002503:Centromere / Q000648:ultrastructure; D006801:Humans; D007223:Infant; D008297:Male; D008938:Mitosis; D009030:Mosaicism; D009630:Nondisjunction, Genetic