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来自家族性臂间倒位的重组4号染色体：产前及成年期的沃夫-赫希洪综合征表型

Recombinant chromosome 4 from a familial pericentric inversion: prenatal and adulthood wolf-hirschhorn phenotypes.

作者信息

Malvestiti Francesca, Benedicenti Francesco, De Toffol Simona, Chinetti Sara, Höller Adelheid, Grimi Beatrice, Fichtel Gertrud, Braghetto Monica, Agrati Cristina, Bonaparte Eleonora, Maggi Federico, Simoni Giuseppe, Grati Francesca Romana

机构信息

Research and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., 25/27 Francesco Ferrer Street Varese (VA), 21052 Busto Arsizio, Italy.

出版信息

Case Rep Genet. 2013;2013:306098. doi: 10.1155/2013/306098. Epub 2013 May 16.

DOI:10.1155/2013/306098
PMID:23762669
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3670532/
Abstract

Pericentric inversion of chromosome 4 can give rise to recombinant chromosomes by duplication or deletion of 4p. We report on a familial case of Wolf-Hirschhorn Syndrome characterized by GTG-banding karyotypes, FISH, and array CGH analysis, caused by a recombinant chromosome 4 with terminal 4p16.3 deletion and terminal 4q35.2 duplication. This is an aneusomy due to a recombination which occurred during the meiosis of heterozygote carrier of cryptic pericentric inversion. We also describe the adulthood and prenatal phenotypes associated with the recombinant chromosome 4.

摘要

4号染色体的臂间倒位可通过4p的重复或缺失产生重组染色体。我们报告了一例家族性Wolf-Hirschhorn综合征病例，通过GTG带型核型分析、荧光原位杂交（FISH）和阵列比较基因组杂交（array CGH）分析，发现该病例由一条重组4号染色体引起，该染色体末端4p16.3缺失和末端4q35.2重复。这是一种由于隐性臂间倒位杂合子携带者减数分裂期间发生重组导致的非整倍体。我们还描述了与重组4号染色体相关的成人期和产前表型。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/30fb/3670532/72cf10a56250/CRIM.GENETICS2013-306098.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/30fb/3670532/72cf10a56250/CRIM.GENETICS2013-306098.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/30fb/3670532/72cf10a56250/CRIM.GENETICS2013-306098.001.jpg

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On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.关于Wolf-Hirschhorn综合征的疾病分类学与发病机制：80例患者的基因型-表型相关性分析及文献综述
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Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1.
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Mol Genet Genomic Med. 2021 Feb;9(2):e1546. doi: 10.1002/mgg3.1546. Epub 2020 Nov 20.
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Recombinant chromosome 4 in two fetuses - case report and literature review.两例胎儿的重组4号染色体——病例报告及文献综述
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