many genetic disorders or possible abnormalities that may occur in the future generations can be predicted through analyzing the features of the chromosomes. for this purpose, karyotype is often used which to make it, there is necessary to identify each one of the 24 chromosomes from the microscopic images. the first step of this process is to define the morphological and band pattern based fea...

Abstract Background Swyer syndrome (Pure gonadal dysgenesis, 46 XY) is a rare form of disorder sexual development. These patients presented with external female phenotype, normal Mullerian structures and streak gonads. Pure XY are more likely to develop germ cell tumors due the presence Y chromosome. Case presentation A 19-year-old patient phenotype primary amenorrhea. Clinical examination, Kar...

Metagenomic characterization of complex biomes remains challenging. Here we describe a modification of digital karyotyping-biome representational in silico karyotyping (BRISK)-as a general technique for analyzing a defined representation of all DNA present in a sample. BRISK utilizes a Type IIB DNA restriction enzyme to create a defined representation of 27-mer DNAs in a sample. Massively paral...

PURPOSE The metaphase karyotype is often used as a diagnostic tool in the setting of early miscarriage; however this technique has several limitations. We evaluate a new technique for karyotyping that uses single nucleotide polymorphism microarrays (SNP). This technique was compared in a blinded, prospective fashion, to the traditional metaphase karyotype. METHODS Patients undergoing dilation...

Abstract Background Central diabetes insipidus (CDI) is a rare complication of myelodysplastic syndrome (MDS). Although the cytogenetic features patients with MDS and CDI are not clear, in acute myeloid leukemia (AML) associated chromosome 7 and/or 3 anomalies. Case presentation In this report, we describe two concurrent CDI, one them, was first manifestation. One patient had monosomy on metaph...

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The accuracy of prenatal diagnosis for abnormal chromosome diseases by chromosome microarray technology and karyotyping were compared. A literature search was carried out in the MEDLINE database with the keywords "chromosome" and "karyotype" and "genetic testing" and "prenatal diagnosis" and "oligonucleotide array sequence". The studies obtained were filtered by using the QUADAS tool, and studi...