Genetic analysis of an adult with mosaicism of uniparental disomy 11p / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1219-1221, 2019.
Article
in Chinese
| WPRIM
| ID: wpr-799981
ABSTRACT
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article
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