Aplastic anemia (AA) may evolve into clonal diseases like myelodysplastic syndrome (MDS) and acute myeloblastic leuke¬mia (AML). Monosomy 7 is a poor prognostic chromosomal abnormality commonly associated with therapy related MDS and secondary AML. It has also been associated with leukomogenic transformation in AA. We present here two adult ma¬le patients with acquired severe AA. Both patients ...

Cytogenetic data were studied in 26 patients with de novo acute myeloid leukemia (AML) with minimal myeloid differentiation, corresponding to the MO subtype of the FrenchAmerican-British classification, in correlation with cytoimmunologic and clinical findings. Clonal abnormalities were detected in 21 cases (80.7%). 12 of which had a complex karyotype. Partial or total monosomy 5q and/or 7q was...

We examined a human gastric carcinoma cell line TMK-1 cytogenetically by G-banding technique. TMK-1 cells were characterized not only by numerical aberrations but also by structural rearrangements affecting various chromosomes. The modal chromosome number was found to be in the hypotriploid range with most ranging between 64 and 66. Flow cytometry revealed near triploid DNA histogram which was ...

introduction: the most common chromosomal abnormalities detected in perinatal period are aneuploidies of chromosome 21, 18, 13, x and y. the aim of this study is to assess referral reasons for invasive diagnostic method using rapid qf-pcr for fetal chromosomal abnormalities in gynecologists’ referrals. methods: a retrospective study of results was performed on data between september 2015 and ju...

OBJECTIVE The aim of the study was to examine the usage of multi colour FISH technology as an adjunct to conventional cytogenetics for the prenatal diagnosis of aneuploidy in interphase nuclei from high risk pregnancies. METHODS Amniotic fluid samples were collected for interphase FISH analysis using DNA probes for chromosomes 13, 18, 21, X and Y. All the probes were directly labeled with flu...

Fetal heart rate, umbilical artery pulsatility index, end-diastolic flow, nuchal translucency thickness and placental thickness were recorded in 250 women with a viable singleton pregnancy undergoing chorionic villous sampling for fetal karyotyping at 11-14 weeks of gestation. The fetal karyotype was normal in 210 cases and abnormal in 40, including 21 with trisomy 21, 13 with trisomy 18, three...

Partial monosomy 10q25.2----qter, detected in a newborn baby with multiple congenital abnormalities, was found to be derived from a balanced maternal translocation t(6;10)(q27;q25.2). The pedigree of six generations of the family is presented. In an extensive cytogenetic study of this family, the chromosome complements of 57 subjects, potentially capable of carrying some form of this translocat...

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...