DOI 10.3760/cma.j.issn.1003-9406.2018.04.016

Медицинская библиотека · Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2018

[Genetic diagnosis of a child with aortic stenosis and thumb aplasia].

Wu Dong, Hou Qiaofang, Li Tao, Wang Xin, Huo Xiaodong, Gao Yue, Zhang Mengting, Ding Xuebing, Yang Yanli, Liao Shixiu

Клинический случайСтатьяПеревод в очереди

Аннотация

OBJECTIVE

To analyze the molecular mechanism and prognosis of a child with aortic stenosis and thumb aplasia.

METHODS

The karotypes of the child and his parents were analyzed with routine G-banding. Their genomic DNA was also analyzed with array comparative genomic hybridization(aCGH) for chromosomal duplications/deletions.

RESULTS

No karyotypic abnormality was detected at cytogenetic level for the child and his parents. aCGH identified a de novo 5.86 Mb deletion at 2q22.3-q23.3 in the child.

CONCLUSION

The child was diagnosed with 2q23.1 microdeletion syndrome. MBD5 may be the key gene for the 2q23.1 microdeletion syndrome.

Для цитирования: Wu Dong, Hou Qiaofang, Li Tao, Wang Xin, Huo Xiaodong, Gao Yue, Zhang Mengting, Ding Xuebing, Yang Yanli, Liao Shixiu. [Genetic diagnosis of a child with aortic stenosis and thumb aplasia].. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2018. DOI: 10.3760/cma.j.issn.1003-9406.2018.04.016.

Предметные рубрики MeSH

Aortic Valve Stenosis Child Chromosome Banding Chromosome Deletion Chromosome Disorders Chromosomes, Human, Pair 2 Comparative Genomic Hybridization DNA-Binding Proteins Humans Male Thumb

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