3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema: further characterization of the dup(5p13) syndrome
In a male patient with developmental delay, autistic behaviour, obesity, lymphedema, hypertension, macrocephaly, and facial features of chromosome 5p duplication (trisomy 5p) a 3.7 Mb de novo tandem microduplication of 5p13.1-13.2 (rs4703415-rs261752, i.e., chr5:35.62-39.36 Mb) was identified. This...
Gespeichert in:
| Hauptverfasser: | , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
4 January 2011
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| In: |
European journal of medical genetics
Year: 2011, Jahrgang: 54, Heft: 3, Pages: 225-230 |
| ISSN: | 1878-0849 |
| DOI: | 10.1016/j.ejmg.2010.12.012 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.ejmg.2010.12.012 Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S176972121000159X 
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| Verfasserangaben: | Konrad Oexle, Maja Hempel, Anna Jauch, Thomas Meitinger, Núria Rivera-Brugués, Sabine Stengel-Rutkowski, Tim Strom |
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| 520 | |a In a male patient with developmental delay, autistic behaviour, obesity, lymphedema, hypertension, macrocephaly, and facial features of chromosome 5p duplication (trisomy 5p) a 3.7 Mb de novo tandem microduplication of 5p13.1-13.2 (rs4703415-rs261752, i.e., chr5:35.62-39.36 Mb) was identified. This observation contributes to the characterization and dissection of the 5p13 duplication syndrome. The possible role of increased NIPBL gene dosage is discussed. | ||
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| 650 | 4 | |a Lymphedema | |
| 650 | 4 | |a Mental retardation | |
| 650 | 4 | |a Obesity | |
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