De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome.

doi:10.1016/j.ejmg.2010.05.002

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Article

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome.

European journal of medical genetics - 1 Jan 2000

Faivre Laurence, Khau Van Kien Philippe, Callier Patrick, Ruiz-Pallares Nathalie, Baudoin Corinne, Plancke Aurélie, Wolf Jean-Eric, Thauvin-Robinet Christel, Durand Edith, Minot Delphine, Dulieu Véronique, Metaizeau Jean-Damien, Leheup Bruno, Coron Fanny, Bidot Samuel, Huet Frédéric, Jondeau Guillaume, Boileau Catherine, Claustres Mireille, Mugneret Francine

Abstract excerpt

Interstitial deletions involving the 15q21.1 band are very rare. Only 4 of these cases have been studied using molecular cytogenetic techniques in order to confirm the deletion of the whole FBN1 gene. The presence of clinical features of the Marfan syndrome (MFS) spectrum associated with mental retardation has been described in only 2/4 patients. Here we report on a 16-year-old female referred for suspicion of...

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Identifiers

PMID: 20478419
DOI: 10.1016/j.ejmg.2010.05.002

Genes

FBN1
TGFBR1
TGFBR2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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