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Mosaic trisomy 13: understanding origin using SNP array

Mosaic trisomy 13: understanding origin using SNP array

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_864191022

Mosaic trisomy 13: understanding origin using SNP array

About this item

Full title

Mosaic trisomy 13: understanding origin using SNP array

Publisher

England: BMJ Publishing Group Ltd

Journal title

Journal of medical genetics, 2011-05, Vol.48 (5), p.323-326

Language

English

Formats

Publication information

Publisher

England: BMJ Publishing Group Ltd

More information

Scope and Contents

Contents

BackgroundTrisomy 13 occurs in 1/10 000–20 000 live births, and mosaicism accounts for 5% of these cases. Phenotype and outcome of mosaic trisomy 13 are variable and poorly understood. Microsatellite analyses of trisomy 13 have indicated the high incidence of maternal meiotic origin and reduced recombination, but no study has focused on mosaic tris...

Alternative Titles

Full title

Mosaic trisomy 13: understanding origin using SNP array

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_864191022

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_864191022

Other Identifiers

ISSN

0022-2593

E-ISSN

1468-6244

DOI

10.1136/jmg.2010.083931

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