Mosaic triple X syndrome in a female with primary amenorrhea.
Indian J Hum Genet
;
2012 May; 18(2): 246-249
Artigo
em Inglês
| IMSEAR
| ID: sea-143281
ABSTRACT
Background:
Turner's syndrome is the most common chromosomal abnormality in females, affecting 1 in 2,500 live female births. It is a result of absence of an X chromosome or the presence of a structurally abnormal X chromosome. Its most consistent clinical features are short stature and ovarian failure.Aim:
The aim of the study was to report a rare case of mosaic triple X syndrome in a female with primary amenorrhea. Materials andMethods:
The chromosomal analysis using GTG banding was carried out, which revealed a mosaicism with 45,XO/47,XXX chromosomal constitution. Fluorescent in situ hybridization was also carried out to further confirm the observation made in the study.Conclusion:
The physical features presented by the female could be due to the 45,XO/47,XXX mosaicism and the karyotype analysis was consistent with the diagnosis and clinical symptoms. Triple X mosaicism was confirmed with conventional and molecular cytogenetic analysis.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Idioma:
Inglês
Revista:
Indian J Hum Genet
Ano de publicação:
2012
Tipo de documento:
Artigo
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