11p15.4 Microdeletion Associates with Hemihypertrophy

Surasak Puvabanditsin; Mehrin Sadiq; Marianne Jacob; Maaz Jalil; Kenya Cabrera; Omer Choudry; Rajeev Mehta

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11p15.4 Microdeletion Associates with Hemihypertrophy

机译：11p15.4微缺失与半肥大

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We report a preterm female infant with intrauterine growth retardation, dysmorphic facies, missing rib, small hands and feet, and hemihypertrophy. The results of whole genome SNP microarray analysis showed approximately 77 Kb interstitial deletion of the short arm of chromosome 11 (11p15.4). We report novel clinical findings of this rare genetic condition.

机译：我们报告了早产女婴，其子宫内发育迟缓，畸形相，肋骨缺失，手脚小和肥大。全基因组SNP微阵列分析的结果显示，第11号染色体短臂（11p15.4）的间质缺失约为77 Kb。我们报告这种罕见的遗传病的新临床发现。

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《Case Reports in Genetics》 |2018年第2期|共页
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Surasak Puvabanditsin; Mehrin Sadiq; Marianne Jacob; Maaz Jalil; Kenya Cabrera; Omer Choudry; Rajeev Mehta;
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中图分类临床医学;
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2. Stability of gene expression in human T cells in different gravity environments is clustered in chromosomal region 11p15.4 [J] . Cora S. Thiel, Andreas Huge, Swantje Hauschild, NPJ Microgravity . 2017,第1期

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3. Concomitant 11p15.4‐p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith–Wiedemann syndrome [J] . Peterson Jess F., Bick David P., Geddes Gabrielle C., American journal of medical genetics, Part A . 2016,第12期

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4. An intelligent web-based system for the detection and visualization of biomarkers in Microdeletion and Microduplication Syndromes [C] . Konstantinos Stefanou, Christos Bellos, Georgios Stergios, IEEE International Conference on Bioinformatics and Bioengineering . 2020

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6. 11p15.4 Microdeletion Associates with Hemihypertrophy [O] . Surasak Puvabanditsin, Mehrin Sadiq, Marianne Jacob, 2018

机译：11p15.4微缺失与半肥大
7. Microdeletions at DYS448 and DYS387S1 associate with increased risk of male infertility [O] . Yanqing Li, Qiurong Zhao, Hai Liu 2017

机译：DYS448和DYS387S1的微缺失性随着男性不孕症的风险增加

11p15.4 Microdeletion Associates with Hemihypertrophy

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