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.
Artigo
em Chinês
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Deficiências do Desenvolvimento
/
Testes Genéticos
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Bandeamento Cromossômico
/
Polimorfismo de Nucleotídeo Único
/
Dissomia Uniparental
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Genética
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Cardiopatias Congênitas
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Cariotipagem
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Mosaicismo
Limite:
Adulto
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
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