Variegated aneuploidy related to premature centromere division (PCD) is expressed in vivo and is a cancer-prone disease.
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.
Plaja
A
A
Unitat de Genètica, H. Materno-Infantil Vall d'Hebron, Barcelona, Spain. plaja.hmi@cs.vhebron.es
Vendrell
T
T
Smeets
D
D
Sarret
E
E
Gili
T
T
Català
V
V
Mediano
C
C
Scheres
J M
JM
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000328:Adult; D000782:Aneuploidy; D002503:Centromere / Q000235:genetics*; D002648:Child; D020732:Cytogenetic Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000150:complications / Q000235:genetics; D009369:Neoplasms / Q000209:etiology / Q000235:genetics*