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. 2012 Jan 19:5:5.
doi: 10.1186/1755-8166-5-5.

Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene

Mileny Es Colovati  1 , Luciana Rj da Silva, Sylvia S Takeno, Tatiane I Mancini, Ana R N Dutra, Roberta S Guilherme, Cláudia B de Mello, Maria I Melaragno, Ana B A Perez
Affiliations

Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene

Mileny Es Colovati et al. Mol Cytogenet. .

Abstract

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

Results: We report here on a female patient with clinical symptoms of the MFS spectrum plus craniostenosis, hypothyroidism and intellectual deficiency who presents a 1.9 Mb deletion, including the FBN1 gene and a complex rearrangement with eight breakpoints involving chromosomes 6, 12 and 15.

Discussion: This is the first report of MFS with a complex chromosome rearrangement involving a deletion of FBN1 and contiguous genes. In addition to the typical clinical findings of the Marfan syndrome due to FBN1 gene haploinsufficiency, the patient presents features which may be due to the other gene deletions and possibly to the complex chromosome rearrangement.

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Figures

Figure 1
Figure 1
Patient at age 13 years.
Figure 2
Figure 2
Cytogenetic and molecular data from the patient studied. A) GTG-banded chromosomes showing the translocation involving chromosomes 6, 12 and 15. B) Array result for chromosome 15 showing the 1.9 Mb deletion (red) at 15q21.1 including the FBN1 gene (arrow). C) FISH with WCP probes of chromosomes 6, 12 and 15 in different color combinations showing a complex chromosomal rearrangement. D) FISH with probes RP11-631P6 (6q13) in red and RP11-46N22 (6q14.3) in green, showing signals next to each other on the normal chromosome 6 and separate signals on the der (6) chromosome. E) FISH with probes RPRP11-627A9 (15q23) in green and RP11-793M16 (12q24.13) in red, showing signals of both on the derivative chromosome 12. F) Ideogram of the derivative chromosomes involved in the patient's complex chromosome rearrangement, showing the probes used to define the breakpoints and the 15q21.1 band deletion (arrow).
See this image and copyright information in PMC

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