An isodicentric X chromosome with short arm fusion in a woman without somatic features of Turner's syndrome.
نویسندگان
چکیده
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.
منابع مشابه
An isodicentric X chromosome with gonadal dysgenesis in a lady without prominent somatic features of Turner's syndrome. A case report.
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...
متن کاملXq- Turner's syndrome: reconsideration of hypothesis that Xp- causes somatic features in Turner's syndrome.
Jacobs et al. (1961) suggested that a study of individuals with deletions of the X chromosome, 'may help to determine whether genes which influence height are on the short arm of the X chromosome'. Ferguson-Smith (1965) advanced the hypothesis, based on further karyotype-phenotype correlations, that 'deletion of the long arm of the X chromosome ... is not sufficient by itself to cause the extre...
متن کاملAn isodicentric X chromosome with short arm fusion in a woman without somatic features of Turner's syndrome
6 Littlefield JW. Genes, chromosomes and cancer. J Pediatr 1984;104:489-94. 7 Faulkner KW, Holmes LB, Steinfeld A, Abroms IF. A child with 18qsyndrome and cerebellar astrocytoma. J Pediatr 1983;103:600-2. 8 Yunis JJ, Ramsay N. Retinoblastoma and subband deletion of chromosome 13. Am J Dis Child 1978;132:161-3. 9 Riccardi VM, Sujansky E, Smith AC, Francke V. Chromosomal imbalance in the aniridia...
متن کاملFeatures in Turner's Syndrome
Jacobs et al. (1961) suggested that a study of individuals with deletions of the X chromosome, 'may help to determine whether genes which influence height are on the short arm of the X chromosome'. Ferguson-Smith (1965) advanced the hypothesis, based on further karyotype-phenotype correlations, that 'deletion of the long arm of the X chromosome ... is not sufficient by itself to cause the extre...
متن کاملBalanced 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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عنوان ژورنال:
- Journal of medical genetics
دوره 24 7 شماره
صفحات -
تاریخ انتشار 1987