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Larsen-like phenotype associated with partial trisomy 3p and monosomy 5p.
Prenat Diagn. 2008 Feb; 28(2):131-4.PD

Abstract

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.

Authors+Show Affiliations

Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, Service de Cytogénétique Médicale, France.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

18236428

Citation

Goumy, C, et al. "Larsen-like Phenotype Associated With Partial Trisomy 3p and Monosomy 5p." Prenatal Diagnosis, vol. 28, no. 2, 2008, pp. 131-4.
Goumy C, Beaufrère AM, Tchirkov A, et al. Larsen-like phenotype associated with partial trisomy 3p and monosomy 5p. Prenat Diagn. 2008;28(2):131-4.
Goumy, C., Beaufrère, A. M., Tchirkov, A., Gouas, L., Gaspard, F., Giollant, M., Roucaute, T., Veronèse, L., Lemery, D., & Vago, P. (2008). Larsen-like phenotype associated with partial trisomy 3p and monosomy 5p. Prenatal Diagnosis, 28(2), 131-4. https://doi.org/10.1002/pd.1928
Goumy C, et al. Larsen-like Phenotype Associated With Partial Trisomy 3p and Monosomy 5p. Prenat Diagn. 2008;28(2):131-4. PubMed PMID: 18236428.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Larsen-like phenotype associated with partial trisomy 3p and monosomy 5p. AU - Goumy,C, AU - Beaufrère,A M, AU - Tchirkov,A, AU - Gouas,L, AU - Gaspard,F, AU - Giollant,M, AU - Roucaute,T, AU - Veronèse,L, AU - Lemery,D, AU - Vago,P, PY - 2008/2/1/pubmed PY - 2008/5/14/medline PY - 2008/2/1/entrez SP - 131 EP - 4 JF - Prenatal diagnosis JO - Prenat Diagn VL - 28 IS - 2 N2 - 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. SN - 0197-3851 UR - https://www.unboundmedicine.com/medline/citation/18236428/Larsen_like_phenotype_associated_with_partial_trisomy_3p_and_monosomy_5p_ L2 - https://doi.org/10.1002/pd.1928 DB - PRIME DP - Unbound Medicine ER -