Syndrome of microcephaly, Dandy-Walker malformation, and Wilms tumor caused by mosaic variegated aneuploidy with premature centromere division (PCD):report of a new case and review of the literature

We report a male infant with multiple congenital anomalies and mosaic varie gated aneuploidy: a rare cytogenetic abnormality characterized by mosaicism for several different aneuploidies involving many different chromosomes. H e had prenatal-onset growth retardation, microcephaly. dysmorphic face. sei zures, hypotonia, feeding difficulty, and developmental delay. In addition, he developed bilateral Wilms tumors. Neuroradiological examination reveale d Dandy-Walker malformation and hypoplasia of the cerebral hemisphere and p ens. Cytogenetic analysis revealed various multiple numerical aneuploidies in blood lymphocytes, fibroblasts, and bone marrow cells, together with pre mature centromere division (PCD). Peripheral blood chromosome analysis from his parents also showed PCD, but no aneuploid cells. The clinical phenotyp e and multiple aneuploidies of the patient may be a consequence of the homo zygous PCD trait inherited from his parents. Comparison with previously rep otted cases of multiple aneuploidy suggests that mosaic variegated aneuploi dy with PCD may be a clinically recognizable syndrome with major phenotypes being mental retardation, microcephaly. structural brain anomalies (includ ing Dandy-Walker malformation), and possible cancer predisposition.