Search results for "REARRANGEMENT"
showing 10 items of 298 documents
Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing…
2008
A homozygous reciprocal translocation, 46,XY,t(10;11),t(10;11), was detected in a boy with non-syndromic congenital sensorineural hearing impairment. Both parents and their four other children were heterozygous translocation carriers, 46,XX,t(10;11) and 46,XY,t(10;11), respectively. Fluorescence in situ hybridization of region-specific clones to patient chromosomes was used to localize the breakpoints within bacterial artificial chromosome (BAC) RP11-108L7 on chromosome 10q24.3 and within BAC CTD-2527F12 on chromosome 11q23.3. Junction fragments were cloned by vector ligation and sequenced. The chromosome 10 breakpoint was identified within the PDZ domain containing 7 (PDZD7) gene, disrupti…
Clinical Significance of Rare Copy Number Variations in Epilepsy A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization
2012
Objective To perform an extensive search for genomic rearrangements by microarray-based comparative genomic hybridization in patients with epilepsy. Design Prospective cohort study. Setting Epilepsy centers in Italy. Patients Two hundred seventy-nine patients with unexplained epilepsy, 265 individuals with nonsyndromic mental retardation but no epilepsy, and 246 healthy control subjects were screened by microarray-based comparative genomic hybridization. Main Outcomes Measures Identification of copy number variations (CNVs) and gene enrichment. Results Rare CNVs occurred in 26 patients (9.3%) and 16 healthy control subjects (6.5%) (P = .26). The CNVs identified in patients were larger (P = …
Molecular analysis in patients with mucopolysaccharidosis type II suggests that DXS466 maps within the Hunter gene
1993
Hunter disease is an X-linked mucopolysaccharidosis caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). Using the IDS cDNA and DNA probes corresponding to loci flanking the IDS locus, we performed molecular genetic studies in two patients with Hunter syndrome. An interstitial deletion spanning the middle part of the IDS gene was found in the first patient. The second patient carries a gross gene rearrangement that can be detected after HindIII or EcoRI digestion of genomic DNA, and is similar to that found recently in seven unrelated Hunter patients. Our data suggest that the structural aberration observed is a partial intragenic inversion. As the same altered hybridiz…
Contribution of Large Genomic Rearrangements in Italian Lynch Syndrome Patients: Characterization of a Novel Alu-Mediated Deletion
2012
Lynch syndrome is associated with germ-line mutations in the DNA mismatch repair (MMR) genes, mainlyMLH1andMSH2. Most of the mutations reported in these genes to date are point mutations, small deletions, and insertions. Large genomic rearrangements in the MMR genes predisposing to Lynch syndrome also occur, but the frequency varies depending on the population studied on average from 5 to 20%. The aim of this study was to examine the contribution of large rearrangements in theMLH1andMSH2genes in a well-characterised series of 63 unrelated Southern Italian Lynch syndrome patients who were negative for pathogenic point mutations in theMLH1,MSH2, andMSH6genes. We identified a large novel delet…
Chromosomal rearrangements in childhood acute myeloid leukemia and myelodysplastic syndromes.
1999
Recurrent chromosomal abnormalities present in the malignant cells of children with acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS) often correlate closely with specific clinical and biologic characteristics of the disease. Certain unique cytogenetic rearrangements are associated with distinct morphologic leukemic subtypes. These rearrangements should be detectable in most children with AML and MDS with the use of complementary molecular techniques such as fluorescence in situ hybridization (FISH), Southern blotting, and polymerase chain reaction. Apart from the diagnostic assessment, cytogenetic findings sometimes predict clinical outcome and thus also serve as prognostic …
Pan-cancer analysis of whole genomes
2020
Publisher's version (útgefin grein)
Electron Ionization Induced Fragmentation of some 3-Aroylamino-5-Methyl-1,2,4- Oxadiazoles and 3-Acetylamino-5-Aryl-1,2,4-Oxadiazoles
2017
: Background and objectives. 1,2,4-Oxadiazoles show a high reactivity and represent starting compounds for the synthesis of several other heterocycles. Some their derivatives can give the so called Boulton-Katritzky Reactions (BKR) which opens the way to the synthesis of several azoles. For this reason we have registered the mass spectra of several 3-aroylamino-5-methyl-1,2,4-oxadiazoles and 3-acetylamino-5-aryl-1,2,4-oxadiazoles. Methods and results. Thus, studying the mass spectra of the isomeric couple 3-benzoylamino-5-methyl-1,2,4-oxadiazole (1A) and 3-acetylamino-5-phenyl-1,2,4-oxadiazoles (1B) we have observed that MIKE and CID MIKE spectra of their molecular ions and of the [M – CH2C…
A symmetrization result for Monge–Ampère type equations
2007
In this paper we prove some comparison results for Monge–Ampere type equations in dimension two. We also consider the case of eigenfunctions and we derive a kind of “reverse” inequalities. (© 2007 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim)
Mass spectra of chlorinated esters: 2—Methyl mono- and dichlorobutanoates
1982
The mass spectral fragmentations of methyl mono- and dichlorobutanates have been studied. Deutrium labelling and metastable ion analysis were used to elucidate the fragmentation mechanisms. The molecular ion peaks of the esters are weak and show only in the spectra of the monochloro isomers. A McLafferty rearrangement gives the base peaks in the spectra of methyl 2-chloro-, 4-chloro- and 4,4-dichlorobutanoate; α-cleavage, [COOCH3]+, in methyl 2,2- and 2,4-dichlorobutanoate; [MCl]+, in methyl 3-chlorobutanoate; [MClHCl]+, in methyl 3,4-dichlorobutanoate; [MClCH2CO]+, in methyl 3,3-dichlorobutanoate and [MClCOOCH3]+˙, in methyl erythro- and threo-2,3-dichlorobutanoate. The mass spectra of the…
Mass spectra of halogenated esters 5—Chloromethyl esters of aliphatic C2C12n-carboxylic acids and their monochlorinated derivatives
1984
A study has been made of the mass spectral fragmentation upon electron impact of aliphatic C2C12 chloromethyl esters and all their 66 monochlorinated derivatives. The fragmentation pathways of the parent chloromethyl esters were elucidated with the aid of the 1st FFR metastable ions. A McLafferty rearrangement gives the base peak in the C6C11 parent esters and in almost all the 4-chloro and ω-chloro isomers. The subsequent loss of HCl gives a very characteristic peak of the chloromethyl esters and their (3-ω)-chloro derivatives at m/z 72, [C3H4O2]+. The 2-chloro isomers have the corresponding chlorine-containing fragment ion at m/z 106/108. The mass spectra of 2-, 3-, 4-, 5- and ω-chloro is…