Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

FrancescaMalvestiti; FrancescoBenedicenti; SimonaDe Toffol; SaraChinetti; AdelheidH?ller; BeatriceGrimi; GertrudFichtel; MonicaBraghetto; CristinaAgrati; EleonoraBonaparte; FedericoMaggi; GiuseppeSimoni; Francesca RomanaGrati

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Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

机译：家族性外周反位的重组染色体4：产前和成年狼-赫希霍恩表型。

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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.

机译：4号染色体的周向反转可通过4p的复制或缺失产生重组染色体。我们报告了一个家族性病例，其特征是由带有末端4p16.3缺失和末端4q35.2重复的重组染色体4引起的GTG带状核型，FISH和阵列CGH分析所表征的Wolf-Hirschhorn综合征。这是由于重组导致的气肿，该重组发生在隐性周中心倒置的杂合子载体减数分裂过程中。我们还描述了与重组染色体4相关的成年和产前表型。

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《Case Reports in Genetics》 |2013年第2期|共4页
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FrancescaMalvestiti; FrancescoBenedicenti; SimonaDe Toffol; SaraChinetti; AdelheidH?ller; BeatriceGrimi; GertrudFichtel; MonicaBraghetto; CristinaAgrati; EleonoraBonaparte; FedericoMaggi; GiuseppeSimoni; Francesca RomanaGrati;
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中图分类临床医学;
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1. Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome. [J] . Vermeulen SJ, Speleman F, Vanransbeeck L, European journal of human genetics: EJHG . 2005,第1期

机译：家族性18号染色体的中心周围倒置：dup（18p）/ del（18q）或dup（18q）/ del（18p）重组染色体杂合的患者的行为异常。
2. A fourteen years follow-up of a case of partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of chromosome 12: clinical, cytogenetic and molecular observations. [J] . Vaglio A, Milunsky A, Huang XL, European journal of medical genetics . 2007,第3期

机译：对一个12号染色体家族三体倒置的部分三体12q和单体12p重组体的病例进行了十四年的随访：临床，细胞遗传学和分子学观察。
3. Prenatal detection by subtelomeric FISH and MLPA of unbalanced meiotic recombinants resulting from parental pericentric inversions. [J] . Grati FR, Chinetti S, Malgara R, Molecular and Cellular Probes: The Location, Diagnosis and Monitoring of Disease by Specific Molecules and Cell Lines . 2008,第5a6期

机译：产前检测通过亚端粒FISH和MLPA对父母亲周围异位导致的不平衡减数分裂重组体进行检测。
4. Cell-Free DNA Prenatal Screen Pipeline for Trisomy and Sex Chromosome Aneuploidy at the Mayo Clinic [C] . Carlos P. Sosa International Molecular Medicine Tri-Conference. . 2019

机译：Mayo诊所的三元和性染色体非细胞非染色体的无细胞DNA产前筛网管道
5. Neurobehavioral effects of prenatal morphine exposure in adulthood. [D] . Riley Michelle A. 2006

机译：成年期吗啡暴露对神经行为的影响。
6. Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes [O] . Francesca Malvestiti, Francesco Benedicenti, Simona De Toffol, 2013

机译：家族性外周反位的重组染色体4：产前和成年期沃尔夫-希尔施霍恩表型
7. Familial pericentric inversion of chromosome 11 detected prenatally [O] . Russell, Marcia H, Miller, Phyllis, Killam, Allen 1982

机译：产前检测到的家族性11号染色体的中心周围倒置

Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

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