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Inherited Aneuploidy: Germline Mosaicism

1 Jan 2011

Abstract excerpt

Germline mosaicism has been thought to be a rare cause of aneuploidy in the human population. Recent evidence from cytological and population studies suggests otherwise. Approximately 5% of young couples with a Down syndrome child show evidence of germinal mosaicism. Molecular cytogenetic analysis of oocytes has proved germinal or gonadal mosaicism for trisomies of chromosomes 13 and 21 in several studies...

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PMID: 21487228
DOI: 10.1159/000323606

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