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.
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.
Subject(s)
Adult , Humans , Chromosome Banding , Developmental Disabilities , Genetics , Genetic Testing , Heart Defects, Congenital , Genetics , Karyotyping , Mosaicism , Phenotype , Polymorphism, Single Nucleotide , Uniparental DisomyABSTRACT
The pharmaceutical co-crystal has attracted a lot of attention in recent years as a new direction in the research of polymorphism drugs. The research on pharmaceutical co-crystal has scientific significance for improving the solubility, bioavailability and physical or chemical stability of drugs. In this paper, from the perspective of drugs for the treatment of cardiovascular diseases(including five major types: heart failure, hypertension, coronary heart disease and arrhythmia, stroke) , the latest research results of pharmaceutical co-crystal reported in recent years are reviewed, hope to provide reference for the follow-up research and promote the development of pharmaceutical co-crystal in China.