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A new interesting article has been published in Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Dec 10; 36(12):1219-1221. doi: 10.3760/cma.j.issn.1003-9406.2019.12.017. and titled:

[Genetic analysis of an adult with mosaicism of uniparental disomy 11p].

Authors of this article are:

Xin Y, Fang H, Yuan P, Jiang Y.

A summary of the article is shown below:

OBJECTIVE: To analyze the clinical phenotype and genomic abnormality of an adult featuring congenital heart defect and multiple developmental disorders.METHODS: The patient was subjected to conventional G-banding chromosomal karyotyping and single nucleotide polymorphism microarray (SNP-array) analysis.RESULTS: The patient showed a normal karyotype, while SNP-array revealed a 42.7 Mb mosaic uniparental disomy (UPD) in the 11p15.5p12 region ([hg19] chr11: 491 333-43 189 376).CONCLUSION: The mosaicism of UPD of 11p15.5p12 region probably underlies the congenital heart defect and developmental disorders in the patient.

Check out the article’s website on Pubmed for more information:

This article is a good source of information and a good way to become familiar with topics such as: Adult; Chromosome Banding; Developmental Disabilities; Genetic Testing; Heart Defects, Congenital; Humans; Karyotyping; Phenotype; Polymorphism, Single Nucleotide.

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