نتایج جستجو برای: monosomy x
تعداد نتایج: 624158 فیلتر نتایج به سال:
PURPOSE The aim of this study was to investigate the rate of monosomy 3 by CISH technique in Iranian patients with uveal melanoma (UM) and its correlation with clinical and histopathological features. METHOD Archival formalin fixed, paraffin-embedded material from 50 patients who had undergone enucleation for large uveal melanomas was obtained. Monosomy of chromosome 3 alteration by chromogen...
Studies on mitochondrial and cytoplasmic malate dehydrogenase in childhood myelodysplastic syndrome.
Three cases of uncommon childhood hematologic disorders are reported. At presentation, one patient had refractory anemia with an excess of blasts (RAEB) with partial 7-monosomy and was reclassified into RAEB "in transformation" thereafter. Another case was diagnosed as acute myelogenous leukemia with complete 7-monosomy. The other case was diagnosed as RAEB "in transformation" without chromosom...
Monosomal karyotype (MK) defined by either ⩾2 autosomal monosomies or single monosomy with at least one additional structural chromosomal abnormality is associated with a dismal prognosis in patients with acute myeloid leukemia (AML). It was detected in 174 of 3041 AML patients in South Korean Registry. A total of 119 patients who had received induction therapy were finally analyzed to evaluate...
Newly developed genetic techniques can reveal mosaicism in individuals diagnosed with monosomy X. Noninvasive prenatal diagnosis using maternal blood can detect most fetuses with X chromosome abnormalities. Low-dose and ultralow-dose estrogen replacement therapy can achieve a more physiological endocrine milieu. However, many complicated and controversial issues with such treatment remain. Ther...
Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18. The incidence is estimated to be about 1:50,000 live-born infants. In the commonest form of the disorder, the dysmorphic syndrome is very moderate and non-specific. The main clinical features are short stature, round face with short philtrum, palpebral ptosis and large ear...
Alterations of the Cerebral White Matter in a Middle-Aged Patient with Turner Syndrome: An MRI Study
A 52-year-old woman with intellectual disability was admitted to the hospital due to pneumonia. MRI of her brain showed diffuse hyperintensities on T(2)-weighted and fluid attenuated inversion recovery images in the bilateral cerebral white matter. Laboratory examination revealed sustained high levels of serum KL-6. Karyotyping revealed partial monosomy of the X chromosome. This is the first ca...
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