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  Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius

Klopocki, E., Schulze, H., Strauß, G., Ott, C.-E., Hall, J., Trotier, F., et al. (2007). Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius. American Journal of Human Genetics: AJHG / American Society of Human Genetics, 80(2), 232-240. Retrieved from http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=17236129#id2600547.

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Genre: Zeitschriftenartikel
Alternativer Titel : Am. J. Hum. Genet.

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Klopocki, Eva1, Autor           
Schulze, Harald, Autor
Strauß, Gabriele, Autor
Ott, Claus-Eric, Autor
Hall, Judith, Autor
Trotier, Fabienne1, Autor           
Fleischhauer, Silke, Autor
Greenhalgh, Lynn, Autor
Newbury-Ecob, Ruth A., Autor
Neumann, Luitgard M., Autor
Habenicht, Rolf, Autor
König, Rainer, Autor
Seemanova, Eva, Autor
Megarbane, André, Autor
Ropers, Hans-Hilger2, Autor           
Ullmann, Reinhard3, Autor           
Mundlos, Stefan1, Autor           
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
3Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              

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 Zusammenfassung: Thrombocytopenia–absent radius (TAR) syndrome is characterized by hypomegakaryocytic thrombocytopenia and bilateral radial aplasia in the presence of both thumbs. Other frequent associations are congenital heart disease and a high incidence of cow’s milk intolerance. Evidence for autosomal recessive inheritance comes from families with several affected individuals born to unaffected parents, but several other observations argue for a more complex pattern of inheritance. In this study, we describe a common interstitial microdeletion of 200 kb on chromosome 1q21.1 in all 30 investigated patients with TAR syndrome, detected by microarray-based comparative genomic hybridization. Analysis of the parents revealed that this deletion occurred de novo in 25% of affected individuals. Intriguingly, inheritance of the deletion along the maternal line as well as the paternal line was observed. The absence of this deletion in a cohort of control individuals argues for a specific role played by the microdeletion in the pathogenesis of TAR syndrome. We hypothesize that TAR syndrome is associated with a deletion on chromosome 1q21.1 but that the phenotype develops only in the presence of an additional as-yet-unknown modifier (mTAR).

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Sprache(n): eng - English
 Datum: 2007-02-01
 Publikationsstatus: Erschienen
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Titel: American Journal of Human Genetics : AJHG / American Society of Human Genetics
  Alternativer Titel : Am. J. Hum. Genet.
Genre der Quelle: Zeitschrift
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Ort, Verlag, Ausgabe: -
Seiten: - Band / Heft: 80 (2) Artikelnummer: - Start- / Endseite: 232 - 240 Identifikator: ISSN: 0002-9297