RARE CASE OF A HETEROZYGOUS MICRODELETION 9q21.11-q21.2: CLINICAL AND GENETIC CHARACTERISTICS

Ivanov H. Y.; Stoyanova V; Ivanov I.; Linev A.; Vazharova R.; Ivanov S.; Balabanski L.; Toncheva D.

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RARE CASE OF A HETEROZYGOUS MICRODELETION 9q21.11-q21.2: CLINICAL AND GENETIC CHARACTERISTICS

机译：罕见的杂合微缺9 Q21.11-Q21.2：临床和遗传特征

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Intellectual disability is affecting 3.0-4.0% of the general population. Copy number variants (CNVs) are a significant cause leading to neurodevelopmental disorders such as intellectual disability, epilepsy, autism spectrum disorders and developmental delay. The use of single nucleotide polymorphism (SNP)-array and array comparative genomic hybridization (aCGH) as diagnostic tools has led to the recognition of new microdeletion/microduplication syndromes associated with neurodevelopmental disorders. It is also useful for further characterization of marker chromosomes. Here, we report a girl with mild intellectual disability and mild facial dysmorphisms. Cytogenetic analysis showed a marker chromosome in some percent of the cells and was followed by SNP-array karyotyping that detected, in addition, a 9655 Mb de novo interstitial deletion at 9q21.1-9q21.2.

机译：智力残疾正在影响一般人群的3.0-4.0％。拷贝数变体（CNVS）是导致神经发育障碍，如智力残疾，癫痫，自闭症谱系和发育延迟等神经发育障碍的重要原因。使用单核苷酸多态性（SNP） - array和阵列对比基因组杂交（ACGH）作为诊断工具导致识别与神经发育障碍相关的新微型微缺失/微量综合综合症。它对于进一步表征标志物染色体也是有用的。在这里，我们举报了一个患有轻度智力残疾和轻度面部虚张声道的女孩。细胞遗传学分析在一些细胞中显示出标记染色体，然后被检测到的SNP阵列核型，此外，此外，在9℃，11-9〜9季度，Novo全口腔间隙缺失。

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《Balkan journal of medical genetics: BJMG》 |2018年第2期|共4页
作者
Ivanov H. Y.; Stoyanova V; Ivanov I.; Linev A.; Vazharova R.; Ivanov S.; Balabanski L.; Toncheva D.;
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作者单位

Med Univ Plovdiv Dept Pediat &

Med Genet Vasil Aprilov 15-A Str Plovdiv 4002 Bulgaria;

Med Univ Plovdiv Dept Pediat &

Med Genet Vasil Aprilov 15-A Str Plovdiv 4002 Bulgaria;

Med Univ Plovdiv Dept Pediat &

Med Genet Vasil Aprilov 15-A Str Plovdiv 4002 Bulgaria;

Med Univ Plovdiv Dept Pediat &

Med Genet Vasil Aprilov 15-A Str Plovdiv 4002 Bulgaria;

Sofia Univ St Kliment Ohridski Dept Biol Med Genet &

Microbiol Sofia Bulgaria;

Hosp Dr Malinov Dept Genom Sofia Bulgaria;

Hosp Dr Malinov Dept Genom Sofia Bulgaria;

Hosp Dr Malinov Dept Genom Sofia Bulgaria;

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正文语种 eng
中图分类遗传学;
关键词
Deletion at 9q21.1; Interstitial deletion; Single nucleotide polymorphism (SNP)-array;

机译：在9Q21.1中删除;间质缺失;单核苷酸多态性（SNP） - array;

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RARE CASE OF A HETEROZYGOUS MICRODELETION 9q21.11-q21.2: CLINICAL AND GENETIC CHARACTERISTICS

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