Molecular and cytogenetic study on 18 cases of amenorrhea: the use of fluorescence in situ hybridization and high resolution-comparative genomic hybridization / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 256-260, 2007.
Artigo
em Chinês
| WPRIM
| ID: wpr-247340
ABSTRACT
<p><b>OBJECTIVE</b>To explore the use of fluorescence in situ hybridization (FISH) and high resolution-comparative genomic hybridization (HR-CGH) techniques in amenorrhea study.</p><p><b>METHODS</b>After routine gynecologic examination, ultrasonography and endocrine examination, 17 cases of primary amenorrhea and 1 case of secondary amenorrhea were analysed by using chromosomal diagnoses including multiplex FISH and HR-CGH analyses.</p><p><b>RESULTS</b>Among 17 cases of primary amenorrhea, 7 revealed a 46,XX karyotype; 10 cases (58.8%) had abnormal karyotype, including 3 cases of 46,XY females, 2 cases of Turner's syndrome with 45,X and 45,X/46,XX, and other 5 cases with abnormal structure of X chromosome (including partial monosomy of X,X isochromosome and X/Y mosaic). The karyotype of the patient with secondary amenorrhea was translocation between X chromosome and euchromosome.</p><p><b>CONCLUSION</b>The using of FISH and HR-CGH can correctly diagnose the patients' karyotypes, and provide absolutely necessarily medical genetic data for clinical diagnosis and therapy.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Patologia
/
Aberrações Cromossômicas
/
Cromossomos Humanos
/
Hibridização in Situ Fluorescente
/
Diagnóstico
/
Hibridização Genômica Comparativa
/
Amenorreia
/
Genética
/
Cariotipagem
Tipo de estudo:
Estudo diagnóstico
Limite:
Adolescente
/
Adulto
/
Feminino
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2007
Tipo de documento:
Artigo
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