An isodicentric X chromosome with gonadal dysgenesis in a lady without prominent somatic features of Turner's syndrome. A case report.
نویسندگان
چکیده
Isodicentric X chromosomes in general have phenotypes characteristic of the resultant X deletions. Gonadotropin levels in Turner's syndrome (TS) girls are high, but have a normal biphasic pattern. Here, we report a 21-year-old lady with primary amenorrhea. Clinical examination revealed a short neck but no other typical stigmata of Turner's syndrome. The levels of gonadotropin were not raised to post-menopausal levels. A chromosome study showed a 45,X/46,X,idic(X)(q22) karyotype. She was diagnosed as having Turner's syndrome.
منابع مشابه
Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea
AbstractChromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome ...
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A 25 year old woman with gonadal dysgenesis but no other somatic features of Turner's syndrome was found to have a 45,X/46,XidicX(p22.3) karyotype. It is postulated that because her stature is within the normal range there has been no loss of genetic material in the fusion of the two Xs. Her mother, who also had a history of menstrual problems, was found to be a 46,XX/47,XXX mosaic.
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متن کاملThe X linked recessive form of XY gonadal dysgenesis with a high incidence of gonadal germ cell tumours: clinical and genetic studies.
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ورودعنوان ژورنال:
- Journal of the Formosan Medical Association = Taiwan yi zhi
دوره 114 1 شماره
صفحات -
تاریخ انتشار 2015