Interstitial Deletion of Proximal 8q Including Part of the Centromere from Unbalanced Segregation of a Paternal Deletion/Marker Karyotype with Neocentromere Formation at 8p22 | Zendy

Rachel D. Burnside | Zendy; J. Ibrahim | Zendy; C. Flora | Zendy; Stuart Schwartz | Zendy; James Tepperberg | Zendy; Peter Papenhausen | Zendy; P.E. Warburton | Zendy

Open Access

Interstitial Deletion of Proximal 8q Including Part of the Centromere from Unbalanced Segregation of a Paternal Deletion/Marker Karyotype with Neocentromere Formation at 8p22

Author(s) -

Rachel D. Burnside,

J. Ibrahim,

C. Flora,

Stuart Schwartz,

James Tepperberg,

Peter Papenhausen,

P.E. Warburton

Publication year - 2011

Publication title -

cytogenetic and genome research

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.571

H-Index - 88

ISSN - 1424-8581

DOI - 10.1159/000322815

Subject(s) - biology , centromere , marker chromosome , microbiology and biotechnology , karyotype , chromosome , genetics , fluorescence in situ hybridization , chromosome 22 , chromosome 21 , aneuploidy , chromosome 15 , gene

The 'McClintock mechanism' of chromosome breakage and centromere misdivision, in which a deleted chromosome with its concomitant excised marker or ring chromosome is formed, has been described in approximately one dozen reports. We report a case of a girl with short stature, developmental delay, and dysmorphic features.

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