Partial deletion 11q: report of a case with a large terminal deletion 11q21-qter without loss of telomeric sequences, and review of the literature |
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| Authors: | Jens Michael Hertz ,Niels Tommerup,Flemming Brandt Sø rensen,Ulrik V. Henriques,Alice Nielsen,Aage J. Therkelsen |
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| Affiliation: | Institute of Human Genetics, University of Aarhus, Aarhus, Denmark;Danish Center for Human Genome Research, The John F. Kennedy Institute, Glostrup, Denmark;Institute of Pathology, Aarhus University Hospital, Aarhus, Denmark |
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| Abstract: | We describe the cytogenetic findings and the dysmorphic features in a stillborn girl with a large de novo terminal deletion of the long arm of chromosome 11. The karyotype was 46,XX,del(11)(q21qter). By reviewing previous reports of deletion 11q, we found that cleft lip and palate are most frequently seen in proximal 11q deletions involving 11q21. Telomeric staining using the PRINS technique demonstrated normal telomeric sequences in the deleted chromosome 11. |
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| Keywords: | chromosome 11 deletion Jacobsen's syndrome telomeric staining |
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