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Article

Cancer-prone syndrome of mosaic variegated aneuploidy and total premature chromatid separation: report of five infants.

American journal of medical genetics - 15 Nov 2001

Kajii T, Ikeuchi T, Yang Z Q, Nakamura Y, Tsuji Y, Yokomori K, Kawamura M, Fukuda S, Horita S, Asamoto A

Abstract excerpt

Five infants (two girls and three boys) from four families all had severe pre- and postnatal growth retardation, profound developmental delay, microcephaly, hypoplasia of the brain with Dandy-Walker complex or other posterior fossa malformations, and developed uncontrollable clonic seizures. Four infants developed Wilms tumors, and one showed cystic lesions in bilateral kidneys. All five infants showed variegated...

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PMID: 11746029
DOI: 10.1002/ajmg.1580

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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