Detection of cryptic Y chromosome mosaicism by coamplification PCR with archived cytogenetic slides of suspected Turner syndrome
Experimental & Molecular Medicine
;
: 38-41, 2000.
Artigo
em Inglês
| WPRIM
| ID: wpr-16697
ABSTRACT
Turner syndrome is one of the most common cytogenetic abnormalities. It is known that the Y chromosome or Y derived material is present in 6-9% of TS patient and it may develop a high risk of gonadoblastoma in 15-25%. So it is crucial to carry out cyto genetic analysis and Y-specific probe studies for all persons with gonadal dysgenesis to rule out mosaicism with Y-bearing cell line; eg 45,X/46,XY. In this study, 26 archival slides previously analyzed cytogenetically as 45,X, 45,X/46,X,i(X), 45,X/46,X,r(X), and 45,X/46,XX were examined. Coamplification PCR, having the advantage of providing rapid result and confirming PCR failure, was performed with the slide samples in the regions of dystrophin gene in Xp21and DYZ3 in the Y centromeric region. All of archived slides were positive for X-specific gene and one slide of 45,X was found to have the cryptic Y chromosome material. Our result suggests that the archived cytogenetic slides could be applied for the detection of Y chromosome rapidly and efficiently in TS patients.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fatores de Tempo
/
Preservação de Tecido
/
Síndrome de Turner
/
Cromossomo X
/
Cromossomo Y
/
Biópsia
/
DNA
/
Centrômero
/
Reação em Cadeia da Polimerase
/
Distrofina
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Experimental & Molecular Medicine
Ano de publicação:
2000
Tipo de documento:
Artigo
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