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Updated: Jul 7, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Larsen-like phenotype associated with partial trisomy 3p and monosomy 5p
C Goumy1, A M Beaufrère, A Tchirkov
1Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, Service de Cytogénétique Médicale, France.
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).
Results:
CGH showed a large loss of the chromosome 5 short arm and a gain of half of the short arm of chromosome 3 resulting from a derivative chromosome 5. FISH analysis with FLNB probe demonstrated that it was not triplicated. Thus, we excluded the role of a gene dosage effect of FLNB in abnormal craniofacial development in this fetus.
Conclusions:
To our knowledge, this is the first report of Larsen-like phenotype associated with unbalanced translocation resulting in partial trisomy 3p and monosomy 5p.
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