Search
Search Results
-
-
Comparative analysis of the application with the combination of CMA and karyotype in routine and late amniocentesis
PurposeThis is a retrospective comparative study. We aimed to analyze the results of karyotype and chromosomal microarray analysis (CMA) of amniotic...
-
Allogeneic hematopoietic cell transplantation for acute myeloid leukemia with hyperdiploid complex karyotype
Allogeneic hematopoietic cell transplantation (allo-HCT) remains the best consolidation strategy for acute myeloid leukemia (AML) with complex...
-
Alagille-like syndrome with surprising karyotype: a case report
BackgroundChromosome 5p partial monosomy (5p-syndrome) and chromosome 6p partial trisomy are chromosomal abnormalities that result in a variety of...
-
The complex karyotype in hematological malignancies: a comprehensive overview by the Francophone Group of Hematological Cytogenetics (GFCH)
Karyotype complexity has major prognostic value in many malignancies. There is no consensus on the definition of a complex karyotype, and the...
-
Unusual sex chromosomal DSD in a domestic Shorthair cat with a 37,X/38,XY mosaic karyotype
BackgroundSex chromosome abnormalities associated with disorders of sexual development (DSD) are rarely described in cats, mainly due to the lack of...
-
Clinical features of complex karyotype in newly diagnosed acute myeloid leukemia
Complex karyotype acute myeloid leukemia (CK-AML) has been classified as an adverse-risk subtype. Although a few reports have further classified...
-
Live birth in woman with premature ovarian insufficiency and 46, XY karyotype after chemotherapy and bone marrow transplant: a case report
BackgroundPremature ovarian insufficiency (POI) is a clinical syndrome defined by loss of ovarian function before the age of 40 years, characterized...
-
Chromosome microarray analysis combined with karyotype analysis is a powerful tool for the detection in pregnant women with high-risk indicators
BackgroundKaryotype analysis and fluorescence in situ hybridization (FISH) are commonly used for prenatal diagnosis, however they have many...
-
Factors associated with fetal karyotype in spontaneous abortion: a case-case study
BackgroundMost embryos that spontaneously abort during early pregnancy are found to have chromosomal abnormalities. The purpose of this study is to...
-
Association of maternal risk factors with fetal aneuploidy and the accuracy of prenatal aneuploidy screening: a correlation analysis based on 12,186 karyotype reports
BackgroundNIPT is becoming increasingly important as its use becomes more widespread in China. More details are urgently needed on the correlation...
-
Cardiovascular Manifestations of Turner Syndrome: Phenotypic Differences Between Karyotype Subtypes
Turner syndrome (TS) is a genetic disorder presenting in phenotypic females with total or partial monosomy of the X chromosome. Cardiovascular...
-
High hyperdiploid karyotype with ≥ 49 chromosomes represents a heterogeneous subgroup of acute myeloid leukemia with differential TP53 mutation status and prognosis: a single-center study from China
High hyperdiploid karyotype with ≥ 49 chromosomes (which will be referred to as HHK) is rare in acute myeloid leukemia (AML). The European leukemia...
-
PCR vs karyotype for CVS and amniocentesis—the experience at one tertiary fetal medicine unit
PurposeDespite the rise of non-invasive screening tests for fetal aneuploidy, invasive testing during pregnancy remains the definitive diagnostic...
-
A new case of trisomy 5 with complex karyotype abnormalities in B-cell prolymphocytic leukemia: a case study
BackgroundThe B-cell prolymphocytic leukemia (B-PLL) diagnosis is challenging due to the superposition with mature B-cell leukemia and/or lymphoma.
...
-
Multiplex ligation-dependent probe amplification identifies copy number changes in normal and undetectable karyotype MDS patients
Chromosomal abnormalities play an important role in classification and prognostication of myelodysplastic syndrome (MDS) patients. However, more than...
-
-
The de novo aberration rate of prenatal karyotype was comparable between 1496 fetuses conceived via IVF/ICSI and 1396 fetuses from natural conception
PurposeTo evaluate the cytogenetic risk of assisted reproductive technology (ART) by comparing the incidence of de novo chromosomal abnormalities...
-
Karyotype-Phenotype Correlation in Turner Syndrome at a Single Center in Eastern India
ObjectiveTo describe clinical features in Indian girls with Turner syndrome along with the phenotype-karyotype correlation.
Methods103 girls with...