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Cytogenetic and epidemiological findings in Down syndrome: England and Wales 1989–2009

21 Mar 2012

Abstract excerpt

This study describes the characteristics of karyotypes leading to phenotypic Down syndrome (trisomy 21) in 29,256 cases diagnosed between 1989 and 2009 in England and Wales included in the National Down Syndrome Cytogenetic Register (NDSCR). The frequency of occurrence of the different karyotypes, proportions diagnosed prenatally, sex ratios, mean maternal age, and proportions of mothers with recurrences were...

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PMID: 22438132
DOI: 10.1002/ajmg.a.35248

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