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
Dans Chinois
| WPRIM
| ID: wpr-781312
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Phénotype
/
Incapacités de développement
/
Dépistage génétique
/
Zébrage chromosomique
/
Polymorphisme de nucléotide simple
/
Disomie uniparentale
/
Génétique
/
Cardiopathies congénitales
/
Caryotypage
/
Mosaïcisme
Limites du sujet:
Adulte
/
Humains
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2019
Type:
Article
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