Effect of chromosome constitution variations on the expression of Turner phenotype.
نویسندگان
چکیده
Turner syndrome (TS) is a chronic disease related to haploinsufficiency of genes that are normally expressed in both X chromosomes in patients with female phenotype that is associated with a wide range of somatic malformations. We made detailed cytogenetic and clinical analysis of 65 patients with TS from the region of Recife, Brazil, to determine the effects of different chromosome constitutions on expression of the TS phenotype. Overall, patients with X-monosomy exhibited a tendency to have more severe phenotypes with higher morbidity, showing its importance in TS prognosis. Additionally, we found rare genetic and phenotypic abnormalities associated with this syndrome. To the best of our knowledge, this is the first case of 45,X,t(11;12)(q22;q22) described as a TS karyotype. Turner patients usually have normal intelligence; however, moderate to severe levels of mental retardation were found in 5 TS cases, which is considerate a very uncommon feature in this syndrome.
منابع مشابه
Effects of Karyotype Variations on Phenotype of Patients with Turner Syndrome
Background: Turner syndrome (TS) is a sporadic disorder caused by the absence of all or some parts one X-chromosome with major developmental consequences such as short stature and ovarian failure etc. The minor manifestations of TS are cubitus valgus, micrognatism, high-arched palate, short and/or webbed neck, hypothyroidism, etc. Different karyotype abnormalities may lead to different clinical...
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عنوان ژورنال:
- Genetics and molecular research : GMR
دوره 12 4 شماره
صفحات -
تاریخ انتشار 2013