نتایج جستجو برای: monosomy x
تعداد نتایج: 624158 فیلتر نتایج به سال:
PURPOSE To report on the heterogeneity of monosomy 3 in a fine needle aspiration biopsy obtained transsclerally from choroidal melanoma for prognosis. METHODS All clinical records for patients who had been diagnosed with choroidal melanoma and underwent iodine-125 plaque brachytherapy with intraoperative transscleral fine needle aspiration biopsy from January 2005 to August 20, 2011, and who ...
We thank Dr Ozcelik for his careful reading of our review and his thoughtful letter. Dr Ozcelik raises the issue of nonequivalence of monosomy X frequency and X-chromosome inactivation pattern (XCIP). The first refers to the proportion of cells with a single X chromosome, wherein transcription occurs from the lone X chromosome. The second refers to the ratio of inactivated maternal to paternal ...
Primary myelodysplasia (MDS) without an increased number of blasts is a rare finding in childhood. We performed a retrospective analysis of 67 children with a diagnosis of primary MDS to determine the clinical and hematologic course of the disease. The median age at diagnosis was 8.3 years (range, 0.3-18.1 years). In contrast to refractory anemia in adults, 44% of patients had hemoglobin levels...
We report on a 23-year-old girl with short stature, short and wide neck, low posterior hairline, hypogonadism, underdeveloped breasts, infantile uterus, ovaries not visualized, and primary amenorrhea. Cytogenetic G-banding analysis revealed a mosaic karyotype of 46,X,dup(X)(q22)[35]/45,X[15], confirming the clinical suspicion of Turner syndrome. Molecular cytogenetics using a multicolor banding...
We thank Dr Ozcelik for his careful reading of our review and his thoughtful letter. Dr Ozcelik raises the issue of nonequivalence of monosomy X frequency and X-chromosome inactivation pattern (XCIP). The first refers to the proportion of cells with a single X chromosome, wherein transcription occurs from the lone X chromosome. The second refers to the ratio of inactivated maternal to paternal ...
The gene balance hypothesis predicts that an imbalance in the dosage sensitive genes affects the cascade of gene networks that may influence the fitness of individuals. The phenotypes associated with chromosomal aneuploidies demonstrate the importance of gene dosage balance. We have employed untransformed human fibroblast cells with different number of X chromosomes to assess the expression of ...
We present a case of a female patient with monosomy of X chromosome in peripheral lymphocytes and skin fibroblasts, normal ovarian function and associated multiple congenital abnormalities of the aorta: bicuspid aortic valve, dilatation of the ascending aorta and multiple cystic structures of the aortic wall, complicated by endarteritis. We review the literature on fertile women with 45,X karyo...
PURPOSE To study whether monosomy 3 can predict time until death caused by metastatic melanoma, whether life expectancy can be predicted in patients after surgical excision of a melanoma displaying monosomy 3, and to confirm the prognostic value of monosomy 3 and its correlation with tumor histology. METHODS Archival specimens from 71 patients who died of metastatic melanoma and 40 patients w...
A 2-day method using flow cytometry and FISH for interphase cells was developed to detect monosomy 7 cells in myelodysplastic syndrome patients. The method, Interphase Chromosome Flow-FISH (IC Flow-FISH), involves fixation of leukocytes from blood, membrane permeabilization, hybridization of cellular DNA with peptide nucleic acid probes with cells intact, and analysis by flow cytometry. Hundred...
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