Variegated aneuploidy related to premature centromere division (PCD) is expressed in vivo and is a cancer-prone disease
- PMID: 11169558
- DOI: 10.1002/1096-8628(20010122)98:3<216::aid-ajmg1091>3.0.co;2-0
Variegated aneuploidy related to premature centromere division (PCD) is expressed in vivo and is a cancer-prone disease
Abstract
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 retardation, flat and broad nasal bridge, apparently low-set ears, eye and skin abnormalities, and ambiguous genitalia in male patients. The occurrence of Wilms tumor in three patients, rhabdomyosarcoma in two others and acute leukemia in a fifth characterizes this condition as a chromosome or genome instability disorder with a high risk of malignancy. FISH studies in uncultured blood and buccal smear cells demonstrate that the random aneuploidies are not limited to cultured cells, but also occur in vivo.
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