Article
Larsen-like phenotype associated with partial trisomy 3p and monosomy 5p.
Prenatal diagnosis - 1 Feb 2008
Goumy C, Beaufrère A M, Tchirkov A, Gouas L, Gaspard F, Giollant M, Roucaute T, Veronèse L, Lemery D, Vago P
Abstract excerpt
BACKGROUND: We report on a fetus with radiographic features of Larsen Syndrome (LS) and unbalanced 3;5 translocation. Recently LS was shown to be caused by mutations in FLNB gene which maps on 3p14.3. METHODS: Comparative genomic hybridization (CGH) was performed to search for genomic imbalances. Fluorescence in situ analysis (FISH) was done with BAC clone RP11-754F19 probe from the FLNB gene region (3p14.3)....
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