2011•Journal Of The Indonesian Medical AssociationOpen access
Cytogenetic Analysis of Mozaic Turner Syndrome
Pratika Yuhyi Hernanda, Arwin Munawariko, Sentot Moestadjab Soeatmadji
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Abstract
Chromosomal analysis for primary and secondary amenorrhea cases is needed for evaluation, treatment, and counseling because it is largely due to genetic and chromosomal abnormalities, including turner syndrome and its variants. History taking, physical examination, laboratory tests, and karyotyping G Banding method were performed to two women with amenorrhea, both primary and secondary, along with short stature. The result of cytogenetic analysis, showed the first patient with primary amenorrhea has a mosaic karyotype 45,X/46,X del(Xp), whereas the second patient with secondary amenorrhea has a mosaic karyotype 45,X/46,XX. Phenotype of both women are not very much different and both had gonadal dysgenesis. Result of chromosomal analysis can assist special management for patients, especially the psychological, neurological, emotional, and cognitive aspects. J Indon Med Assoc. 2011;61:333-6. Keywords: Turner syndrome, short stature, amenorrhea