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1q44-qter Trisomy:Clinical Report and Review of the Literature

1q44-qter Trisomy:Clinical Report and Review of the Literature

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_67055760

1q44-qter Trisomy:Clinical Report and Review of the Literature

About this item

Full title

1q44-qter Trisomy:Clinical Report and Review of the Literature

Publisher

United States: Mary Ann Liebert, Inc

Journal title

Genetic testing and molecular biomarkers, 2009-02, Vol.13 (1), p.79-86

Language

English

Formats

Publication information

Publisher

United States: Mary Ann Liebert, Inc

More information

Scope and Contents

Contents

Subtelomeric rearrangements are one of the main causes of multiple congenital anomalies and mental retardation, and they are detected in 5% of patients. We report on a 6.5-year-old boy with mental retardation, dysmorphic features, and behavioral problems, who revealed 1q44-qter trisomy and 22q13.3-qter monosomy due to a maternal cryptic translocati...

Alternative Titles

Full title

1q44-qter Trisomy:Clinical Report and Review of the Literature

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_67055760

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_67055760

Other Identifiers

ISSN

1945-0265

E-ISSN

1945-0257

DOI

10.1089/gtmb.2008.0075

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