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Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangement...

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangement...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2652810

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

About this item

Full title

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

Publisher

London: BMJ Publishing Group Ltd

Journal title

Journal of medical genetics, 2007-12, Vol.44 (12), p.750-762

Language

English

Formats

Publication information

Publisher

London: BMJ Publishing Group Ltd

More information

Scope and Contents

Contents

Using array comparative genome hybridisation (CGH) 41 de novo reciprocal translocations and 18 de novo complex chromosome rearrangements (CCRs) were screened. All cases had been interpreted as “balanced” by conventional cytogenetics. In all, 27 cases of reciprocal translocations were detected in patients with an abnormal phenotype, and after array...

Alternative Titles

Full title

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2652810

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2652810

Other Identifiers

ISSN

0022-2593,1468-6244

E-ISSN

1468-6244

DOI

10.1136/jmg.2007.052787

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