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  Breakpoints around the HOXD cluster result in various limb malformations

Dlugaszewska, B., Silahtaroglu, A., Menzel, C., Kübart, S., Cohen, M., Mundlos, S., et al. (2006). Breakpoints around the HOXD cluster result in various limb malformations. Journal of Medical Genetics, 43(2), 111-118. doi:10.1136/jmg.2005.033555.

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Genre: Zeitschriftenartikel
Alternativer Titel : J. Med. Genet.

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Dlugaszewska, B.1, Autor           
Silahtaroglu, A., Autor
Menzel, Corinna2, Autor
Kübart, Sabine2, Autor
Cohen, M., Autor
Mundlos, Stefan3, Autor           
Tümer, Z., Autor
Kjaer, K., Autor
Friedrich, U., Autor
Ropers, Hans-Hilger4, Autor           
Tommerup, N., Autor
Neitzerl, H., Autor
Kalscheuer, Vera M.5, Autor           
Affiliations:
1Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433550              
2Max Planck Society, ou_persistent13              
3Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              
4Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
5Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

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Schlagwörter: chromosome rearrangement; HOXD; limb malformation
 Zusammenfassung: Background: Characterisation of disease associated balanced chromosome rearrangements is a promising starting point in the search for candidate genes and regulatory elements. Methods: We have identified and investigated three patients with limb abnormalities and breakpoints involving chromosome 2q31. Patient 1 with severe brachydactyly and syndactyly, mental retardation, hypoplasia of the cerebellum, scoliosis, and ectopic anus, carries a balanced t(2;10)(q31.1;q26.3) translocation. Patient 2, with translocation t(2;10)(q31.1;q23.33), has aplasia of the ulna, shortening of the radius, finger anomalies, and scoliosis. Patient 3 carries a pericentric inversion of chromosome 2, inv(2)(p15q31). Her phenotype is characterised by bilateral aplasia of the fibula and the radius, bilateral hypoplasia of the ulna, unossified carpal bones, and hypoplasia and dislocation of both tibiae. Results: By fluorescence in situ hybridisation, we have mapped the breakpoints to intervals of approximately 170 kb or less. None of the three 2q31 breakpoints, which all mapped close to the HOXD cluster, disrupted any known genes. Conclusions: Hoxd gene expression in the mouse is regulated by cis-acting DNA elements acting over distances of several hundred kilobases. Moreover, Hoxd genes play an established role in bone development. It is therefore very likely that the three rearrangements disturb normal HOXD gene regulation by position effects.

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Sprache(n): eng - English
 Datum: 2006-02-01
 Publikationsstatus: Erschienen
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 Identifikatoren: eDoc: 307705
DOI: 10.1136/jmg.2005.033555
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Titel: Journal of Medical Genetics
  Alternativer Titel : J. Med. Genet.
Genre der Quelle: Zeitschrift
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Ort, Verlag, Ausgabe: -
Seiten: - Band / Heft: 43 (2) Artikelnummer: - Start- / Endseite: 111 - 118 Identifikator: ISSN: 0022-2593