Philadelphia chromosome (Ph) is found in more than 95% of Chronic Myeloid Leukaemia (CML) patients arising from the reciprocal translocation of chromosomes 9 and 22 which results in the formation of chimeric fusion gene BCR-ABL. This paved the path for targeted gene therapy in CML and thus plays a pivotal role in diagnosis and prognosis. Fluorescence in situ hybridization (FISH) is a rapid and ...

The use of conventional cytogenetic techniques in combination with fluorescent in situ hybridization (FISH) and single-nucleotide polymorphism (SNP) microarrays is necessary for the identification of cryptic rearrangements in the diagnosis of chromosomal syndromes. We report two siblings, a boy of 9 years and 9 months of age and his 7-years- and 5-month-old sister, with the classic Wolf-Hirschh...

Pallister Killian syndrome (PKS) is a rare genetic disorder caused by tetrasomy of the short arm of chromosome 12, revealed usually in mosaic distribution of an extra i (12) (p10) chromosome in fibroblasts. The syndrome presents with a recognizable pattern of findings including pigmentary skin changes, coarse face, high forehead, sparse anterior scalp hair, hypertelorism, seizures and progressi...

BACKGROUND & OBJECTIVES Myelodysplastic syndrome (MDS) is a clonal haematopoietic stem cell disorder characterized by ineffective haematopoiesis and leukaemia progression. Cytogenetic analysis has proven to be a mandatory part of the diagnosis of MDS as well as a major indicator for predicting clinical course and outcome. Studies on cytogenetics of MDS are reported mostly from the West and only...

What types of attributions and appraisals predict gratitude to God (GTG)? After preregistering key hypotheses, we did an Internet survey 1078 U.S. adults focused on a recent positive event. Even when controlling religiousness belief, GTG was strongly related divine for the event, which seemed more plausible seen as powerful loving attribution made event seem meaningful. In addition these cognit...

In this note I discuss the problem of cosmological singularities within gauge theories of gravitation. Solutions of cosmological equations with the scalar field are considered. The problem of cosmological singularity is one of the most fundamental issues in modern theoretical cosmology. Investigation of this problem within gauge theories of gravitation (GTG) is of undoubted interest, since nume...

INTRODUCTION Mental retardation (MR) has heterogeneous aetiology mostly with genetic causes. Chromosomal aberrations are one of the most common causes of MR. Reports on chromosome abnormality rate among consanguineous families are sparse. In order to identify the chromosome abnormality rate in idiopathic mental retardation from consanguineous marriages, a total of 322 Iranian families with posi...

Scaffold-assisted autologous chondrocyte implantation (ACI) is an effective clinical procedure for cartilage repair. The aim of our study was to evaluate the chromosomal stability of human chondrocytes subjected to typical cell culture procedures needed for regenerative approaches in polymer-scaffold-assisted cartilage repair. Chondrocytes derived from post mortem donors and from donors schedul...

Prader-Willi syndrome (PWS) is a neurobehavioral disorder caused by deletions in the 15q11-q13 region, by maternal uniparental disomy of chromosome 15 or by imprinting defects. Structural rearrangements of chromosome 15 have been described in about 5% of the patients with typical or atypical PWS phenotype. An 8-year-old boy with a clinical diagnosis of PWS, severe neurodevelopmental delay, abse...