Article
Variegated aneuploidy related to premature centromere division (PCD) is expressed in vivo and is a cancer-prone disease.
American journal of medical genetics - 22 Jan 2001
Plaja A, Vendrell T, Smeets D, Sarret E, Gili T, Català V, Mediano C, Scheres J M
Abstract excerpt
We present three patients with variegated aneuploidy and premature centromere division (PCD), a rare chromosomal abnormality in humans. Comparison of these three and eight other patients with variegated aneuploidy related to PCD demonstrates a phenotype comprising most frequently microcephaly, CNS anomalies (with cerebellar affection and migration defects), mental retardation, pre-and postnatal growth...
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