Two cases of rare diseases with abnormalities of X chromosome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 151-153, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-775791
ABSTRACT
OBJECTIVE@#To explore the clinical features and genetic diagnosis of two cases with rare diseases and X chromosome abnormalities.@*METHODS@#Multiple ligation-dependent probe amplification (MLPA) and karyotype analysis were carried out on an 8-year-old girl who was diagnosed with Duchenne muscular dystrophy. Karyotype analysis and PCR assay for SRY and AZF genes were carried out for a-2-month-old male infant with short penis.@*RESULTS@#The girl, who featured short stature and cubitus valgus, was diagnosed as Turner syndrome with a karyotype of 46,X,i(Xq). The male infant was detected with a karyotype of 45,X, with presence of SRY gene but absence of AZF gene.@*CONCLUSION@#Both cases may be associated with abnormalities of X chromosome. Genetic testing can facilitate early diagnosis and clinical intervention for such patients.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Síndrome de Turner
/
Distrofia Muscular de Duchenne
/
Cromossomos Humanos X
/
Doenças Raras
/
Genética
/
Cariotipagem
Tipo de estudo:
Estudo de rastreamento
Limite:
Humanos
/
Lactente
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
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