与3p部分三体和5p单体相关的类拉森表型。
Larsen-like phenotype associated with partial trisomy 3p and monosomy 5p.
作者信息
Goumy C, Beaufrère A M, Tchirkov A, Gouas L, Gaspard F, Giollant M, Roucaute T, Veronèse L, Lemery D, Vago P
机构信息
Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, Service de Cytogénétique Médicale, France.
出版信息
Prenat Diagn. 2008 Feb;28(2):131-4. doi: 10.1002/pd.1928.
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.
背景
我们报告了一例具有拉森综合征（LS）影像学特征及3;5不平衡易位的胎儿。最近研究表明，LS是由位于3p14.3的FLNB基因突变引起的。
方法
采用比较基因组杂交（CGH）技术寻找基因组失衡情况。使用来自FLNB基因区域（3p14.3）的BAC克隆RP11-754F19探针进行荧光原位分析（FISH）。
结果
CGH显示5号染色体短臂大片段缺失，以及因衍生5号染色体导致3号染色体短臂一半区域获得。用FLNB探针进行FISH分析表明其未发生三倍体化。因此，我们排除了FLNB基因剂量效应在该胎儿颅面发育异常中的作用。
结论
据我们所知，这是首例与不平衡易位相关的拉森样表型的报告，该易位导致部分3p三体和5p单体。
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