نتایج جستجو برای: karyotyping
تعداد نتایج: 1991 فیلتر نتایج به سال:
In this article we describe a system we have constructed that provides for automated karyotyping of metaphase spreads. The software system Athena – based upon the Macintosh II computer and a Data Translation's frame grabber – is written entirely in C and consists of approximately 200 Kbytes of executable code. While Athena does not provide (at this time) facilities for automated metaphase findi...
Fetal chromosome analysis in a twin pregnancy during the first trimester is described. Problems of the reliability of tissue sampling are also discussed. The authors emphasise the advantage of direct cytogenetic analysis from the tissue specimens used for enzyme determination or DNA studies.
OBJECTIVE To investigate the incidence of aneuploidy in fetuses with congenital heart defects (CHDs) and to further identify submicroscopic changes and global DNA methylation levels as potential biomarkers in complex CHD cases. METHODS Fetuses at high risk for birth defects or with obvious sonographic anomalies were recruited at the Prenatal Diagnosis Center and Ultrasonic Diagnosis Center. E...
Myelodysplastic syndrome (MDS) is a group of clonal hematopoietic diseases characterized by cytopenia, dysplasia and increased risk of development to acute myeloid leukemia (AML). Unfavorable cytogenetic changes such as complex karyotypes or chromosome 7 anomalies are predictive of the progression to AML and poor prognosis. Central diabetes insipidus (CDI) is the result of a deficiency of argin...
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