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Article

Jacobsen and Beckwith–Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy

15 Jan 2013

Abstract excerpt

We report on a child with Jacobsen syndrome (JBS, OMIM 147791) and abnormalities consistent with Beckwith-Wiedemann syndrome (BWS, OMIM 130650). The constitutional karyotype was apparently normal, but FISH analysis with probes specific for the short and long arms of chromosome 11 found 11qter deletion with 11pter trisomy in 80% of the cells studied. Array-CGH identified breakpoints in the 11p15.3 and 11q24.1...

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Identifiers

PMID: 23322614
DOI: 10.1002/ajmg.a.35708

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