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Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay

机译：在发育迟缓的患者中，影响母系和父系染色体以及遗传性15q11.2缺失的9个重新复制

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Tayeh, Marwan K.; Rocco, Tracy; Ackley, Todd; Ernst, Leslie; Glover, Thomas; Innis, Jeffrey W.;
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年度 2015
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1. Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay [J] . Leslie Ernst, Marwan K. Tayeh, Thomas Glover, Clinical Case Reports . 2015,第6期

机译：发育迟缓患者中有9个从头复制重复影响母本和父本染色体以及遗传的15q11.2缺失
2. A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features [J] . Quintela Ines, Barros Francisco, Lago-Leston Ramon, American journal of medical genetics, Part A . 2015,第6期

机译：一名男性遗传的16p13.11-p12.3复制伴随着de novo SOX5缺失，该男性患者具有整体发育延迟，破坏性和强迫行为以及轻微的畸形特征
3. Paternally inherited 7q21.3 microdeletion and maternally inherited 22q11.2 microduplication in a patient with split-hand/foot malformation, macrocephaly and developmental delay. [J] . Kuuse Kati, Pajusalu Sander, Zilina Olga, Chromosome research: An international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology . 2015,第Suppla1期

机译：PATERNALLALLITE遗传7Q21.3微缺失和母体遗传继承了22Q11.2微量综合物在患者中，具有分割/足部畸形，宏观域畸形和发育延迟。
4. De Novo Mutations in Y-Chromosome STR Loci Revealed in Paternal Lineages of Siberian Tundra Nentsi Population [C] . Ludmila Osipova, Tatiana Karafet, Michael Hammer NATO Advanced Research Workshop on Radiological Issues Pertaining to Environmental Security and Ecoterrorism . 2012

机译：在西伯利亚苔原Nentsi人口的父系谱系中揭示了y-染色体str基因座中的De nogo突变
5. Microstructural Alteration of White Matter Tracts due to 16p11.2 Chromosomal Duplication and Deletion [D] . Ahn, Seoiyoung. 2018

机译：白色染色体复制和缺失引起的白质椎间盘的微观结构改变
6. Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion in a patient with developmental delay [O] . Marwan K Tayeh, Tracy Rocco, Todd Ackley, 2015

机译：发育迟缓患者中有9个从头复制重复影响母本和父本染色体以及遗传的15q11.2缺失
7. Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation [O] . Corsello, G., Salzano, E., Vecchio, D., 2015

机译：父系单亲二体性染色体14样综合征，这是由于在14q32.2区域的母体从头新出现了160kb缺失，不包括IG和MEG3-DMR：患者报告和基因型与表型的相关性
8. 1.3 Mb de novo Deletion in Chromosome Band 3q29 Associated with Normal Intelligence in a Child [R] . Cobb, W., Anderson, A., Turner, C., 2010

机译：染色体带3q29中的1.3 mb de novo缺失与儿童的正常智力相关

Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay

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