Genetic analysis of an adult with mosaicism of uniparental disomy 11p

Abstract

To analyze the clinical phenotype and genomic abnormality of an adult featuring congenital heart defect and multiple developmental disorders. The patient was subjected to conventional G-banding chromosomal karyotyping and single nucleotide polymorphism microarray (SNP-array) analysis. 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). The mosaicism of UPD of 11p15.5p12 region probably underlies the congenital heart defect and developmental disorders in the patient.