SRY gene-testing in the diagnosis of disorders of sex development among children / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 555-558, 2013.
Article
en Zh
| WPRIM
| ID: wpr-241474
Biblioteca responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the value of direct sequencing of sex-determining region Y (SRY) gene, as well as peripheral blood karyotype analysis, in the diagnosis of disorders of sex development (DSD) among children and adolescents with ambiguous genitalia.</p><p><b>METHODS</b>The karyotypes of 20 children and adolescents with ambiguous genitalia were determined by conventional G-banding analysis. PCR amplification was used to detect SRY gene in these patients, and direct sequencing was used to judge whether there was SRY gene mutation.</p><p><b>RESULTS</b>Of the 20 cases, 17 were positive for SRY gene, and 3 were negative for SRY gene. Direct sequencing revealed no SRY gene mutation in the positive cases, however karyotype analysis found 4 special karyotypes in these patients 46, XY, del(Y) (q12)/45, X; 46, XY, add(Y) (p11); 46, XY, r(9); 46, XY, 9qh+.</p><p><b>CONCLUSIONS</b>SRY gene detection can help determine the type of DSD among children and has the advantage of quick detection. Used together with G-banding analysis, it is helpful for primary diagnosis of DSD among children.</p>
Texto completo:
1
Banco de datos:
WPRIM
Asunto principal:
Trastornos del Desarrollo Sexual
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Bandeo Cromosómico
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Diagnóstico
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Proteína de la Región Y Determinante del Sexo
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Cariotipo
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Genética
Tipo de estudio:
Diagnostic_studies
Límite:
Adolescent
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Child
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Child, preschool
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Humans
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Infant
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Newborn
Idioma:
Zh
Revista:
Chinese Journal of Contemporary Pediatrics
Año:
2013
Tipo del documento:
Article