نتایج جستجو برای: monosomy 21
تعداد نتایج: 249214 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 ...
OBJECTIVE To prospectively determine the diagnostic accuracy of massively parallel sequencing to detect whole chromosome fetal aneuploidy from maternal plasma. METHODS Blood samples were collected in a prospective, blinded study from 2,882 women undergoing prenatal diagnostic procedures at 60 U.S. sites. An independent biostatistician selected all singleton pregnancies with any abnormal karyo...
OBJECTIVE To estimate performance of a single-nucleotide polymorphism-based noninvasive prenatal screen for fetal aneuploidy in high-risk and low-risk populations on single venopuncture. METHODS One thousand sixty-four maternal blood samples from 7 weeks of gestation and beyond were included; 1,051 were within specifications and 518 (49.3%) were low risk. Cell-free DNA was amplified, sequence...
A two year old girl with Down's syndrome (constitutional karyotype: 47 + 21), presenting with pancytopenia, developed acute megakaryoblastic leukaemia (AMKL). Her bone marrow contained an abnormal clone with a novel dicentric chromosome derived from chromosomes 5 and 7 (karyotype 46, XX, -5, -7, +dic (5;7) (p 13; p 11.2), +21. This case provides further evidence for a connection between chromos...
Classical myelofibrosis syndromes (MPS) most frequently occur in adults, but MPS unique to childhood also exist. Such syndromes include juvenile chronic myelomonocytic leukemia (JMML), the MPS of monosomy 7 in childhood, familial chronic myeloid leukemia (CML), the transient MPS of infants with trisomy 21, and childhood forms of myelofibrosis. Neurofibromatosis type 1 (NF1) is an autosomal domi...
Approximately 10-15% of all pregnancies end in spontaneous abortions. Many factors can lead to embryonic loss; however, it has been well established that over 50% of all miscarriages result from chromosomal abnormalities, primarily aneuploidies (>96%). Identifying the cause of miscarriage can significantly reduce the psychological stress in women, and enable better genetic counseling for a futu...
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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