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Marfan syndrome with a complex chromosomal rearrangement including deletion of the <it>FBN1 </it>gene

<p>Abstract</p> <p>Background</p> <p>The majority of Marfan syndrome (MFS) cases is caused by mutations in the fibrillin-1 gene (<it>FBN1</it>), mapped to chromosome 15q21.1. Only few reports on deletions including the whole <it>FBN1 </it>gene, detected by molecular cytogenetic techniques, were foun...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Colovati Mileny ES, da Silva Luciana RJ, Takeno Sylvia S, Mancini Tatiane I, N Dutra Ana R, Guilherme Roberta S, de Mello Cláudia B, Melaragno Maria I, A Perez Ana B
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMC 2012-01-01
Schriftenreihe:Molecular Cytogenetics
Schlagworte:
<it>FBN1</it>
Marfan syndrome
Complex Chromosomal Rearrangement
Online-Zugang:http://www.molecularcytogenetics.org/content/5/1/5
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