نتایج جستجو برای: chromosomal translocation
تعداد نتایج: 87647 فیلتر نتایج به سال:
OBJECTIVE To determine gene(s) disrupted in a patient with partial frontal lobe epilepsy and cognitive impairment with concomitant de novo balanced chromosomal translocation t(2;13)(q24;q31). DESIGN Fluorescence in situ hybridization and array comparative genomic hybridization were used to map the locations of chromosomal translocation breakpoints. RESULTS SLC4A10 (OMIM 605556), a sodium bi...
background: the secondary genetic changes other than the promyelocytic leukemia-retinoic acid receptor (pml-rara) fusion gene may contribute to the acute promyelocytic leukemogenesis. chromosomal alterations and mutation of flt3 (fms-like tyrosine kinase 3) tyrosine kinase receptor are the frequent genetic alterations in acute myeloid leukemia. however, the prognostic significance of flt3 mutat...
chromosomal abnormalities are major causes of infertility, miscarriage and birth of handicapped progeny. in human live births, the prevalence of a chromosome aberration is ?0.5% and, of these, 0.1–0.3% correspond to structural chromosome rearrangements such as translocations, inversions, insertions and deletions .our proband is an infant who had died 4 hours after birth due to a variety of abno...
Genome instability, epigenetic remodelling and structural chromosomal rearrangements are hallmarks of cancer. However, the coordinated epigenetic effects of constitutional chromosomal rearrangements that disrupt genes associated with congenital neurodevelopmental diseases are poorly understood. To understand the genetic-epigenetic interplay at breakpoints of chromosomal translocations disruptin...
Cancer is driven by a selection for mutations that include single nucleotide substitutions, short indels, and large-scale rearrangements of the genome [e.g., chromosomal inversions, translocations, segmental deletions, segmental duplications, and changes in chromosome copy number (aneuploidy and polyploidy)]. The frequency of these events varies greatly among tumors. For example, some tumors ex...
Objective To verify the hypothesis that the incidence of chromosomal abnormalities increases in babies conceived by different assisted reproduction procedures. The availability of the umbilical cord blood encouraged us to study this hypothesis via this method. MaterialsAndMethods This is a descriptive study, umbilical cord blood samples of assisted reproductive technology (ART) children were an...
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