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Chromosome DeletionY ChromosomeSex Chromosome Disorders of Sex DevelopmentChromosome MappingOligospermiaSex Chromosome AberrationsChromosomesChromosomes, Human, YGene DeletionChromosome AberrationsKaryotypingSequence Tagged SitesInfertility, MaleIn Situ Hybridization, FluorescenceChromosome BandingX ChromosomeSequence DeletionChromosomes, Human, Pair 1Sex ChromosomesPhenotypeChromosomes, HumanChromosomes, BacterialChromosomes, Human, Pair 7Chromosome SegregationChromosomes, Human, Pair 11Chromosomes, Human, Pair 17Chromosomes, Human, Pair 9Chromosomes, Human, Pair 6Chromosomes, Human, Pair 22Chromosomes, Human, Pair 21Chromosomes, PlantChromosomes, FungalChromosomes, Human, 6-12 and XChromosomes, Human, Pair 13Chromosomes, Human, Pair 16Chromosomes, Human, Pair 2Molecular Sequence DataChromosomes, Human, Pair 4Chromosomes, Human, Pair 10Chromosome PairingChromosomes, MammalianChromosome DisordersChromosomes, Human, Pair 8Base SequenceChromosomes, Human, Pair 19Chromosomes, Artificial, BacterialChromosomes, Human, Pair 5Chromosomes, Human, XChromosomes, Human, Pair 12Chromosomes, Human, Pair 15Chromosomes, Human, 1-3Chromosome PaintingChromosomes, Human, Pair 14Chromosomes, Artificial, YeastChromosomes, Human, Pair 20Chromosomes, Human, Pair 18Chromosomes, Human, 16-18Chromosome BreakageGenetic LinkageMutationChromosomes, Human, 13-15Chromosomes, Human, 21-22 and YGenetic MarkersChromosome InversionRing ChromosomesChromosomes, Human, 4-5Chromosome PositioningRecombination, GeneticTranslocation, GeneticAmino Acid SequenceX Chromosome InactivationCentromereMeiosisHybrid CellsPedigreeCloning, MolecularChromosomes, InsectChromosomes, Human, 19-20MitosisAllelesChromosome StructuresAneuploidyMetaphaseMicrosatellite RepeatsCrosses, GeneticPolymerase Chain ReactionDNABlotting, SouthernLod ScoreSequence Analysis, DNANucleic Acid HybridizationGenotypePlasmidsAbnormalities, MultipleModels, GeneticRepetitive Sequences, Nucleic AcidGenesHeterozygoteDNA-Binding ProteinsTrisomy
HomozygousMutationsMutationLong arm of chromosomeGenesMissensePathogenic variantsAberrationsTranslocations22q11.2VariantsEncodesAlleleExonPhenotypeHeterozygosityChromosomal deletionGenomic InstabilityINVERSIONPartialDisordersSomaticLocusInsertionsMonosomyKnockoutRecombinationPairsGenomeTypicallyTransgenicMiceKaryotypeGeneticPatientsNeuronalAutosomalOvarianHarborRecurrentSingleMethodsComparativeMalesDescribeTumorsDeficiencyCytogeneticHumanSpectrumDefine
Homozygous10
  • Copy number variation analysis of the NPHP1 gene using the commercially available MLPA kit identified a recurrent large homozygous deletion encompassing all NPHP1 exons. (nih.gov)
  • Whole genome array-CGH analysis confirmed a homozygous deletion on chromosome 2q13, NPHP1 site, and revealed that the size of the copy number loss was approximately 102 Kbp. (nih.gov)
  • 1q23.1 homozygous deletion and downregulation of Fc receptor-like family genes confer poor prognosis in chronic lymphocytic leukemia. (cancerindex.org)
  • There are two beta globin genes, and patients may have heterozygous, homozygous, or compound heterozygous mutations. (msdmanuals.com)
  • In addition, patients may be heterozygous or homozygous for abnormalities in 2 different globin genes (eg, beta and delta). (msdmanuals.com)
  • These mutations may be heterozygous or homozygous. (msdmanuals.com)
  • The affected individuals were either homozygous or compound heterozygous for various mutations including, deletions, nonsense, missense, splice-site, and those in the 3'UTR. (utsouthwestern.edu)
  • In Wnt-1 transgenic mice homozygous for the p53 null allele, tumors appear at an earlier age than in animals heterozygous or wild-type at the p53 locus. (elsevierpure.com)
  • Deep deletion indicates that more than one allele is deleted, and if there are only two copies of the chromosome, then the locus would be homozygous deleted. (thetechnoant.info)
  • Both homozygous and compound heterozygous causative variants have been observed. (preventiongenetics.com)
Mutations16
  • A minority of Spitz nevi (approximately 15%) exhibit HRAS mutations, reflected by an isolated gain of chromosome 11p as a characteristic DNA copy number alteration. (medscape.com)
  • With the exception of activating HRAS variants, they found few additional mutations in Spitz nevi, and few copy number changes other than 11p amplification and chromosome 9 deletions. (medscape.com)
  • Heterozygous intragenic loss-of-function mutations of ERF, encoding an ETS transcription factor, were previously reported to cause a novel craniosynostosis syndrome, suggesting that ERF is haploinsufficient. (ox.ac.uk)
  • The authors found 17 novel mutations, including a complex gene rearrangement found in one individual involving two deletions and a duplication. (neurology.org)
  • 5 This explains why heritable loss-of-function mutations sometimes have pleiotropic effects, not only resulting in white color patterns, but also anemia and/or infertility. (creation.com)
  • Phenotypic analysis of these ' in locus ' mutations based on both expression of Kni protein and adult wing phenotypes, reveals novel unexpected features of L2-CRM function including evidence for a chromosome pairing-dependent process that promotes transcription. (elifesciences.org)
  • The effects of these mutations unexpectedly suggested that pairs of chromosomes might be interacting to control the activity of this gene. (elifesciences.org)
  • Inversions are intrachromosomal structural mutations which result in the reversal of gene order (and no change in the genic content of a chromosome) [ 4 ]. (biomedcentral.com)
  • Beta-thalassemia results from decreased production of beta-polypeptide chains due to either mutations or deletions in the beta globin gene, leading to impaired production of hemoglobin (Hb) A. Mutations or deletions may result in partial loss (beta + allele) or complete loss (beta 0 allele) of beta globin function. (msdmanuals.com)
  • Through positional cloning, we identified disease-causing mutations in the AGPAT2 gene (located on chromosome 9q34, encoding 1-acylglycerol-3-phosphate-O-acyltransferase 2) in affected subjects from 26 of 42 pedigrees of various ethnicities. (utsouthwestern.edu)
  • It is also of interest to note that only five pedigrees revealed mutations in the BSCL2 gene located on chromosome 11q13. (utsouthwestern.edu)
  • These mutations can lead to absence or loss of function ATM protein. (blogspot.com)
  • When patients with heterozygous deletion of 13q14.3 were analysed for mutation of either clone 1 or 2:2, the majority did not have mutations demonstrated within the retained allele. (ucl.ac.uk)
  • The phenotypic spectrum among girls with heterozygous mutations in the X-linked intellectual disability (XLID) gene CASK (calcium/calmodulin-dependent serine protein kinase) includes postnatal microcephaly, ponto-cerebellar hypoplasia, seizures, optic nerve hypoplasia, growth retardation and hypotonia. (biomedcentral.com)
  • Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lef vre syndrome. (lu.se)
  • Loss-of-function mutations in cathepsin C in two families with Papillon-Lef vre syndrome are associated with deficiency of serine proteinases in PMNs. (lu.se)
Mutation13
  • Loss of Heterozygosity is a kind of genetic polymorphism (not a true mutation in my opinion), causing cancer. (geneticeducation.co.in)
  • 62% of patients diagnosed with P53 mutation get cancer has LOH by chromosome 17p deletion. (geneticeducation.co.in)
  • CHARGE syndrome typically occurs spontaneously (i.e. no previous family history) due to a de novo mutation in the CHD7 gene located on chromosome 8q12. (aao.org)
  • [4] It was found that 90-95% of patients fulfilling the formal diagnostic criteria for CHARGE syndrome are heterozygous for a CDH7 mutation or deletion. (aao.org)
  • Abrogation of p53 function by E6 resulted in an increase in the spontaneous mutation frequencies at the heterozygous thymidine kinase (TK) locus but not at the hemizygous hypoxanthine phosphoribosyl transferase (HPRT) locus. (soken.ac.jp)
  • It is still unclear how such a mutation could cause regional loss of fat. (utsouthwestern.edu)
  • Although mutation- or pathway-directed targeted therapy (e.g., using tyrosine kinase inhibitors to treat Philadelphia chromosome [Ph]-positive and Phlike B-cell-ALL) is currently available for only a minority of children with ALL, many of the newly identified molecular alterations have led to the exploration of approaches targeting deregulated cell pathways. (haematologica.org)
  • The dataset was also analyzed for loss of was relatively rare, approximately 10% of the tumors had a nonsense mutation. (thetechnoant.info)
  • Two tumor samples had both an deletion and nonsense mutation. (thetechnoant.info)
  • A number sign (#) is used with this entry because pachyonychia congenita-4 (PC4) is caused by heterozygous mutation in the KRT6B gene (148042) on chromosome 12q13. (findzebra.com)
  • Our data implies that some phenotypic components of CASK heterozygous deletion mutation associated disorders represent systemic manifestation of metabolic stress and therefore amenable to therapeutic intervention. (biomedcentral.com)
  • In 2001, a deletion mutation in the gene (now known as VPS13A) localized to chromosome band 9q21 was identified as the site for the defect generating the autosomal recessive form of NA. (medscape.com)
  • Thus, patients with NA typically carrying this deletion mutation have a deficiency or even absence of chorein. (medscape.com)
Long arm of chromosome2
  • A common deleted region (CDR) in both myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN) affects the long arm of chromosome 20 and has been predicted to harbor a tumor suppressor gene. (elifesciences.org)
  • LOH analysis with microsatellite loci spanning the long arm of chromosome 17, which harbors the TK locus, showed that LOH extended over half of 17q toward the terminal end. (soken.ac.jp)
Genes18
  • Many individuals affected by these disorders possess a shortened form of chromosome 20 that lacks a number of genes. (elifesciences.org)
  • This deletion is only ever seen in one of their two copies of the chromosome-suggesting that at least some of these genes are essential for survival-but the identity of the gene(s) that are associated with the increased risk of myeloid malignancies is unknown. (elifesciences.org)
  • have uncovered a key tumor suppressor among those genes frequently lost on chromosome 20. (elifesciences.org)
  • The smallest (32 kb) and only inherited deletion included two additional centromeric genes and was not associated with ID. (ox.ac.uk)
  • Three larger deletions (264-314 kb) that included at least five further centromeric genes were associated with moderate ID, suggesting that deletion of one or more of these five genes causes ID. (ox.ac.uk)
  • All 23 pairs of chromosomes are inherited in this fashion and thereby genes too. (geneticeducation.co.in)
  • Alpha-thalassemia results from decreased production of alpha-polypeptide chains due to a deletion of one or more alpha genes. (msdmanuals.com)
  • People normally have four alpha genes (two on each of a pair of chromosomes) because the alpha gene is duplicated. (msdmanuals.com)
  • We report statistical evidence that deletion of Xp22.3, an interval containing 31 annotated genes, is sufficient to cause the neurocognitive phenotype described by the TSCS score. (biomedcentral.com)
  • Detailed mapping suggests that haploinsufficiency of one or more genes in Xp22.3, the distal 8.3 megabases (Mb) of the X chromosome, is responsible for a TS neurocognitive phenotype. (biomedcentral.com)
  • The genetic abnormality in TS is determined by the absence of one copy of genes on the X chromosome. (biomedcentral.com)
  • Although one X chromosome undergoes inactivation in normal females during early embryogenesis, about 15% of all X chromosome genes, mostly situated on the short arm (Xp), remain active to some degree on both X chromosomes [ 17 ]. (biomedcentral.com)
  • In this study, we define the deletion endpoints and examine the impact on expression of flanking genes. (biomedcentral.com)
  • Using molecular and cytological methods we demonstrate that 13 imprinted and 11 non-imprinted genes are included in the TgPWS/TgAS deletion. (biomedcentral.com)
  • Normal expression levels were found in TgPWS brain for genes extending 9.1- or 5.6-Mb centromeric or telomeric of the deletion, respectively. (biomedcentral.com)
  • Other than for the first gene promoters immediately outside the deletion, since genes extending 5.6-9.1 Mb away from each end of the deletion show normal expression levels in TgPWS brain, this indicates that the transgene array does not induce silencing and there are no additional linked rearrangements. (biomedcentral.com)
  • Prader-Willi and Angelman syndrome (PWS and AS) are complex neurobehavioral disorders associated with loss of function of a cluster of differentially expressed imprinted genes in chromosome 15q11-q13 [ 1 ]. (biomedcentral.com)
  • Most PWS and AS cases (~70%) are due to ~5 Mb de novo deletions spanning a 2 Mb imprinted domain and several adjacent non-imprinted genes [ 1 ]. (biomedcentral.com)
Missense2
  • The disorder is caused by heterozygous, pathogenic variants (larger deletions, truncating variants or missense variants within the zinc-finger domains) in the CTCF -gene on chromosome 16q22.1, which encodes for an important chromatin organizer. (orpha.net)
  • Variant types cover a broad range including missense, in-frame deletions, nonsense, and frameshift variants. (preventiongenetics.com)
Pathogenic variants1
  • Evaluation of family history in individuals with heterozygous BRCA pathogenic variants diagnosed with breast or ovarian cancer in a single center in Italy. (cdc.gov)
Aberrations5
Translocations1
  • The identification of chromosome 1 translocations and deletions is a rare and poorly investigated event in chronic lymphocytic leukemia (CLL). (cancerindex.org)
22q11.22
  • The differential diagnosis includes 22q11.2 deletion syndrome and a number of other neurodevelopmental disorders associated with feeding difficulties, mild developmental delay and variable anomalies. (orpha.net)
  • Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome. (cdc.gov)
Variants4
  • Surprisingly, germline variants in SAMD9 or SAMD9L were present in 17% of primary MDS patients, and these variants were routinely lost in the tumor cells by chromosomal deletions (e.g., monosomy 7) or copy number neutral loss of heterozygosity (CN-LOH). (nature.com)
  • 10 Germline variants of IKZF1 are observed in familial B-ALL and immunodeficiency, 16 , 17 and somatic IKZF1 alterations are enriched in Philadelphia chromosome (Ph)-positive, Phlike, and DUX4 -rearranged B-ALL. (haematologica.org)
  • PMS2 gene variants result in near or complete loss of PMS2 protein production. (medlineplus.gov)
  • Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). (blogspot.com)
Encodes1
  • It is due to a heterozygous deletion on chromosome 19 that encodes a functional chimeric protein (DNAJB1-PRKACA) and characterized by being less aggressive with a normal alpha-fetoprotein (AFP) tumour marker and a female predominance [ 5 , 6 ]. (biomedcentral.com)
Allele6
  • Loss of Heterozygosity (LOH) is defined as the absence of one normal parental allele or gene (or part of the chromosome) in an organism which usually results in cancer. (geneticeducation.co.in)
  • especially, emphasizing the heterozygous condition, what happens if one allele from any of the parents will not inherit? (geneticeducation.co.in)
  • Unfortunately, during the 17p deletion, the normal allele for the P53 gene is lost and resulting in the loss of heterozygosity. (geneticeducation.co.in)
  • Almost all TK-deficient mutants from TK6-E6 cells exhibited loss of heterozygosity (LOH) with the hemizygous TK allele. (soken.ac.jp)
  • About half of the tumors arising in p53 heterozygotes exhibit loss of the normal p53 allele, implying selection for p53-deficient cells. (elsevierpure.com)
  • However, no patients have an allele combination predicted to result in complete loss of function of PTPN23 , and this is likely incompatible with life. (preventiongenetics.com)
Exon2
  • A (p.I263Nfs8*), a 2 bp duplication in exon 2: c.551_552dupTA (p.Q185Yfs4*) and an 11,117 bp deletion that removes all three coding exons of RP1 . (molvis.org)
  • The third exon of this clone also lies within our minimal region of deletion. (ucl.ac.uk)
Phenotype3
  • These two phenotypic classes appear to reflect variation inherent to the lilli loss-of-function phenotype, rather than partial rescue by a paternal copy of lilli , since they are similarly observed whether wild-type or heterozygous lilli males are used. (sdbonline.org)
  • Genome-wide scans localized the disease phenotype to chromosome 8q, a region harboring RP1, a gene previously implicated in the pathogenesis of RP. (molvis.org)
  • This inference was based on genotype/phenotype comparisons of individual girls and women with partial Xp deletions, with the neurocognitive phenotype considered a dichotomous trait. (biomedcentral.com)
Heterozygosity11
Chromosomal deletion1
  • Chromosomal double-strand breaks (DSBs) occurring in mammalian cells can initiate genomic instability, and their misrepairs result in chromosomal deletion, amplification, and translocation, common findings in human tumors. (soken.ac.jp)
Genomic Instability1
INVERSION1
  • In heterokaryotypic individuals (those that are heterozygous for an inversion) recombination within the inverted region is largely suppressed, either because homologous pairing is partially inhibited or because crossovers give rise to unbalanced gametes (carrying deletions or duplications) which will lead to the death of the zygote [ 1 ]. (biomedcentral.com)
Partial2
  • More recently we have determined a new genetic loci, a zinc metalloproteinase (ZMPSTE24), in subjects diagnosed with mandibuloacral dysplasia , a rare autosomal recessive disorder, that affects multiple tissues including loss of partial adipose tissue leading to insulin resistance and diabetes mellitus. (utsouthwestern.edu)
  • We sought to confirm our findings in a large cohort (n = 47) of adult women with partial deletions of Xp or Xq, enriched for subjects with distal Xp deletions. (biomedcentral.com)
Disorders1
  • We predict that loss of MAP3K4 or other MAPK components may underlie disorders of sexual development (DSD) in humans as well. (plos.org)
Somatic1
Locus2
  • The HDAC10 locus on chromosome 22 is normally indicated using the deletions (Amount 1A). (thetechnoant.info)
  • The chromosome 22 locus made up of the gene is usually shown, and deletions found as a common variant were shown in blue at the bottom. (thetechnoant.info)
Insertions1
  • Genetic polymorphisms range in size from single nucleotides (SNPs) to large scale insertions, deletions, or rearrangements that span several millions of base pairs [ 1 , 2 ]. (biomedcentral.com)
Monosomy2
  • In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1). (lookformedical.com)
  • Turner syndrome (45, X, TS, monosomy X) is the genetic disorder resulting from the absence of all or part of one X chromosome in females. (biomedcentral.com)
Knockout1
  • Although CASK knockout mice were previously reported to exhibit perinatal lethality and a 3-fold increased apoptotic rate in the brain, CASK deletion was not found to affect neuronal physiology and their electrical properties. (biomedcentral.com)
Recombination2
  • The highly skewed distribution of recombination events towards the chromosome ends in zebra finches and other estrildid species may function to minimize crossovers in the inverted regions. (biomedcentral.com)
  • In wild-type p53 cells, spontaneous DSBs appear to be promptly repaired through recombination between homologous chromosomes. (soken.ac.jp)
Pairs1
  • The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. (lookformedical.com)
Genome2
  • Conventional karyotypes can assess the entire genome for changes in chromosome structure and number, but the resolution is relatively coarse, with a detection limit of 5-10Mb. (wikipedia.org)
  • We describe six families harboring heterozygous deletions including, or near to, ERF, of which four were characterized by whole-genome sequencing and two by chromosomal microarray. (ox.ac.uk)
Typically3
  • A karyotype is typically presented as an image of the chromosomes from a single cell arranged from largest (chromosome 1) to smallest (chromosome 22), with the sex chromosomes (X and Y) shown last. (wikipedia.org)
  • Typically heterozygous rats are cryo-recovered in 10-12 weeks to an age of 7 weeks old. (inotivco.com)
  • Prader-Willi and Angelman syndrome (PWS and AS) patients typically have an ~5 Mb deletion of human chromosome 15q11-q13, of opposite parental origin. (biomedcentral.com)
Transgenic2
  • Transgenic mice carrying 16p11.2 deletion ( 16p11 +/− ) display phenotypes reminiscent of those in human patients with 16p11.2 deletion syndrome, but the molecular mechanisms and treatment strategies for these phenotypes remain unknown. (jneurosci.org)
  • A mouse model of PWS and AS has a transgenic insertion-deletion (TgPWS/TgAS) of chromosome 7B/C subsequent to paternal or maternal inheritance, respectively. (biomedcentral.com)
Mice4
  • We characterized hematopoiesis of heterozygous mice (Hspa9+/-), which have a 50% reduction in Hspa9 expression, modeling the heterozygous loss of HSPA9 and 50% reduction in mRNA observed in MDS patients. (wustl.edu)
  • By isolating a Chrna7 -Tg fusion transcript from TgAS mice, we mapped the telomeric deletion breakpoint in Chrna7 intron 4. (biomedcentral.com)
  • Based on the extent of the deletion, TgPWS/TgAS mice are models for PWS/AS class I deletions. (biomedcentral.com)
  • We demonstrate that the neuron-specific deletion of CASK in mice does not cause perinatal lethality but induces severe recurrent epileptic seizures and growth retardation before the onset of adulthood. (biomedcentral.com)
Karyotype1
Genetic4
  • The diagnosis of ACD is based on histopathological evaluation of lung biopsy or autopsy tissue or genetic testing of FOXF1 on chromosome 16q24.1. (researchgate.net)
  • Through genetic linkage studies, we showed X-linked dominant inheritance of RTT and mapped the disease trait to the Xq28 region of the X chromosome. (neurology.org)
  • It is thought that the features of neurofibromatosis type 1 in people with CMMRD syndrome are due to genetic changes in the NF1 gene that result from loss of mismatch repair. (medlineplus.gov)
  • This is reflected in the widespread use of the aCGH platform, a molecular cytogenetic approach for detecting and locating any net gains or losses of genetic material. (mlo-online.com)
Patients7
  • Cytogenetic abnormalities occur in ~50% of MDS patients and an interstitial deletion or loss of chromosome 5 containing HSPA9 is the most common, occurring in up to 25% of patients. (wustl.edu)
  • Further work will determine whether HSPA9 loss contributes to the reduction in B-cell progenitors and increased B-cell apoptosis observed in patients with MDS. (wustl.edu)
  • Patients may experience variable degrees of sensorineural hearing loss. (aao.org)
  • The aim of the work described in this thesis was to define the region of minimal deletion at chromosome 13q14.3 in our patients with B-cell CLL and to then isolate and characterise candidate tumour suppressor gene cDNAs from this genomic region. (ucl.ac.uk)
  • 52% of our patients were shown to have deletion of 13q14.3 when tested by Southern blotting techniques for loss of markers from this region. (ucl.ac.uk)
  • The region of minimal deletion in these patients was shown to be a maximum of 450kb. (ucl.ac.uk)
  • The higher incidence of ccRCC in male patients may partially be accounted by mono-allelic inactivation of the chromatin remodelling gene, KDM5C on the X chromosome [ 6 ]. (springer.com)
Neuronal2
  • The Chrna7 results are explained by hypothesizing loss of an essential neuronal transcriptional enhancer required for ~80% of allelic Chrna7 promoter activity, while the Chrna7 promoter is upregulated in B lymphocytes by the transgene immunoglobulin enhancer. (biomedcentral.com)
  • The mapping of a putative Chrna7 neuronal enhancer inside the deletion has significant implications for understanding the transcriptional regulation of this schizophrenia-susceptibility candidate gene. (biomedcentral.com)
Autosomal1
  • Since that year, rarer autosomal dominant disease forms with variable penetrance with or without chromosome 9 abnormalities have also been described. (medscape.com)
Ovarian5
  • Two other cardinal TS features, ovarian failure and short stature, as well as X chromosome inactivation pattern and subject's age, were unrelated to the TSCS score. (biomedcentral.com)
  • This ovarian dataset had two different gene copy analyses and indicated a high rate of deletion. (thetechnoant.info)
  • A similar dataset analyzed in 2011 with 316 samples indicated about 5% of ovarian cancers with a deep deletion of deletion rates out of all the available malignancy datasets. (thetechnoant.info)
  • Certainly, the frequency of deletion of was higher among ovarian cancers than observed in the general populace using DGV. (thetechnoant.info)
  • Open in a separate window Physique 1 HDAC10 is usually deleted in many ovarian tumors, and loss of HDAC10 correlated with sensitivity to cisplatinA. (thetechnoant.info)
Harbor1
  • Children found to harbor ERF deletions should be referred for craniofacial assessment, to exclude occult raised intracranial pressure. (ox.ac.uk)
Recurrent2
  • Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss. (orpha.net)
  • Further frequent and variable clinical aspects include vision anomalies, sensorineural and/or conductive hearing loss, recurrent infections and minor facial dysmorphism such as a long face with a prominent forehead, long palpebral fissures or a bulbous nasal tip. (orpha.net)
Single1
  • In particular, a distinction between those inversions which cover both chromosome arms and thus include the centromere (pericentric inversions) and those which are restricted to a single chromosome arm (paracentric inversions) has often been made [ 9 ]. (biomedcentral.com)
Methods1
  • This is the first report of determination of an NPHP1 deletion size using routine diagnostic methods. (nih.gov)
Comparative1
Males1
  • In mammals, whether an individual develops as a male or female depends on its sex chromosome constitution: those with a Y chromosome become males because of the development of the embryonic gonad into a testis. (plos.org)
Describe2
  • Other terms used to describe the arrays used for karyotyping include SOMA (SNP oligonucleotide microarrays) and CMA (chromosome microarray). (wikipedia.org)
  • We describe the clinical and molecular features of a child who presented with a large abdominal mass, AML, and a new CK, involving chromosomes 11, 16, and 19 leading to a KMT2A-MLLT1 fusion and 2 extra copies of the ELL gene, thus resulting in the concurrent overexpression of MLLT1 and ELL. (cancerindex.org)
Tumors2
  • In one tumor, the amplified region of chromosome 7 had an ectopically expressed int-2/FGF3 proto-oncogene, a gene known to cooperate with Wnt-1 in the production of mammary tumors. (elsevierpure.com)
  • From a TCGA provisional dataset with 311 samples, 10% of the tumors had a deep deletion of the gene. (thetechnoant.info)
Deficiency1
  • Chronic blood loss, which frequently compounds iron deficiency, is commonly caused by intestinal parasitic infections, particularly hookworm. (cdc.gov)
Cytogenetic1
  • The commonest structural cytogenetic abnormality seen in B-cell CLL is deletion of chromosome 13q13.4 and it is likely that a tumour suppressor gene lies within this deleted region. (ucl.ac.uk)
Human1
Spectrum1
Define1
  • Spitzoid nevi with epithelioid melanocytes and immunohistochemical loss of BAP1 expression (so-called BAPoma or Wiesner nevus) define a distinct form of tumor that in some cases may be associated with a heritable melanoma syndrome characterized by increased risk for ocular melanoma. (medscape.com)