[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.
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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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