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

Hiroshi Kawame, Yoko Sugio, Yuichi Fuyama, Yoshihiro Hayashi, Hideaki Suzuki, Kenji Kurosawa, Kihei Maekawa

Research output: Contribution to journalArticlepeer-review

36 Citations (Scopus)

Abstract

We report a male infant with multiple congenital anomalies and mosaic variegated aneuploidy; a rare cytogenetic abnormality characterized by mosaicism for several different aneuploidies involving many different chromosomes. He had prenatal-onset growth retardation, microcephaly, dysmorphic face, seizures, hypotonia, feeding difficulty, and developmental delay. In addition, he developed bilateral Wilms tumors. Neuroradiological examination revealed Dandy-Walker malformation and hypoplasia of the cerebral hemisphere and pons. Cytogenetic analysis revealed various multiple numerical aneuploidies in blood lymphocytes, fibroblasts, and bone marrow cells, together with premature centromere division (PCD). Peripheral blood chromosome analysis from his parents also showed PCD, but no aneuploid cells. The clinical phenotype and multiple aneuploidies of the patient may be a consequence of the homozygous PCD trait inherited from his parents. Comparison with previously reported cases of multiple aneuploidy suggests that mosaic variegated aneuploidy with PCD may be a clinically recognizable syndrome with major phenotypes being mental retardation, microcephaly, structural brain anomalies (including Dandy-Walker malformation), and possible cancer predisposition.

Original languageEnglish
Pages (from-to)219-224
Number of pages6
JournalJournal of Human Genetics
Volume44
Issue number4
DOIs
Publication statusPublished - 1999

Keywords

  • Dandy-Walker malformation
  • Microcephaly
  • Mosaic variegated aneuploidy
  • Premature centromere division
  • Wilms tumor

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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