نتایج جستجو برای: chromosomal anomalies
تعداد نتایج: 91765 فیلتر نتایج به سال:
AIMS To investigate socioeconomic inequalities in the risk of congenital anomalies, focusing on risk of specific anomaly subgroups. METHODS A total of 858 cases of congenital anomaly and 1764 non-malformed control births were collected between 1986 and 1993 from four UK congenital malformation registers, for the purposes of a European multicentre case control study on congenital anomaly risk ...
A child with multiple congenital anomalies and retardation was found to have a translocation involving chromosome No. 1 and a chromosome of the G group. The affected child has a minute centric fragment of unknown origin in addition to the 1;G translocation. Although the translocation is found throughout 4 generations, the child described here is the only known instance of fetal abnormality in t...
BACKGROUND Associated anomalies have been reported in around 20% of Hirschsprung patients but many Authors suggested a measure of underestimation. We therefore implemented a prospective observational study on 106 consecutive HSCR patients aimed at defining the percentage of associated anomalies and implementing a personalized and up-to-date diagnostic algorithm. METHODS After Institutional Et...
AIM The aim of our study was to identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array CGH) in DNA samples of children in which karyotype results cannot be obtained. The present paper describes the first Albanian experience of an array CGH application. MATERIAL AND METHODS The cohort included seven children with developmental delay or intelle...
Complex chromosome translocations involve changes between three or more chromosomes and are found very rarely in the general population. 2 Abnormal phenotype, mental retardation, recurrent miscarriages, and infertility have been reported in carriers of apparently balanced complex chromosomal rearrangements. Phenotypic abnormalities in patients with apparently balanced chromosomal translocation ...
background: tobacco use has toxic effects on different organs. this study was carried out to assess the effect of indigenous tobacco both in smoking (bidi) and smokeless (gutkha, zarda and khaini) forms on buccal cells at chromosomal level, through assessment of different nuclear anomalies as biomarker. methods:this study was done on people living in durgapur and its adjacent areas, west bengal...
OBJECTIVE To identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array-CGH) in DNA samples of neonates with congenital anomalies of unknown cause from a birth defects monitoring program at a public maternity hospital. METHODS A blind genomic analysis was performed retrospectively in 35 stored DNA samples of neonates born between July of 2011 and...
The chromosomal disorders are individually rare, but collectively they are common whereas the multifactorial disorders are the most common form of genetic disorders. The chromosomal anomalies typically arise from alterations in the DNA containing chromosomal regions and can be reliably detected by karyotype analysis, whereas the multifactorial disorders demonstrate multi-gene as well as environ...
Chromosomal findings are reported in three patients with acute myelomonocytic leukemia and in one with reticulosarcoma leukemia who had been treated for multiple myeloma with melphalan and X-ray. All four patients had striking chromosomal anomalies. An iatrogenic causation of aneuploidy is suggested. This is supported by chromosomal findings in patients with acute leukemia following polycythemi...
a large number of simple or complex translocation involving the cml and aml chromosomal abnormalities has been described. this study was aimed to investigate the complex chromosome aberrations in the series of myeloid malignancies including cml and aml. the present report deals analyzed 187 consecutive with cml and aml patients, using methotrexate cell synchronization and un-stimulated cultur...
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