Rare findings comparative genomic hybridization. Medical search. Frequent questions

Chromosome 8 gains were confirmed by fluorescent in situ hybridization, resulting in the detection of up to five copies of chromosome 8 centromeres per nucleus. (prinsesmaximacentrum.nl)
Further cytogenetic study using standard metaphase fluorescent in situ hybridization (FISH) technique was applied to cultured lymphocytes from peripheral blood, hybridized using green control probe specific to 9q21 loci, and red DMRT1 probe specific to 9p24.3 loci. (biomedcentral.com)
Genetic analysis included karyotyping, X inactivation studies, fluorescent in situ hybridization, microsatellite marker genotyping, and array comparative genomic hybridization. (biomedcentral.com)

In this study, paraffin-embedded material of five cases of pleuropulmonary blastoma was analyzed for genetic alterations by comparative genomic hybridization and five genetic loci by fluorescence in situ hybridization. (prinsesmaximacentrum.nl)
Genome wide association studies, fluorescence in situ hybridization, comparative genomic hybridization, and candidate gene studies have enumerated genetic contributors to cancers in women. (hindawi.com)
Comparative genomic hybridization or fluorescence in situ hybridization might be helpful in detecting specific mutations in lesions with uncertain histology. (medpagetoday.com)
Fluorescence in situ hybridization (FISH) confirmed TFE3 gene rearrangement. (biomedcentral.com)

Pleuropulmonary blastomas are rare malignant intrathoracic tumors of early childhood. (prinsesmaximacentrum.nl)
Comparative genomic hybridization identified aberrations in all pleuropulmonary blastomas, including four amplifications in three tumors at chromosomes 5q33-34, 11q22.2-ter, 15q25-ter, and 19q11-13.2. (prinsesmaximacentrum.nl)
Initiation and propagation of tumors reflect underlying genomic alterations such as mutations, polymorphisms, and copy number variations found in genes of multiple cellular pathways. (hindawi.com)
SCCOHTs showed remarkable genomic stability, with diploid profiles and low mutation load (mean, 5.43 mutations/Mb), including in the three chemotherapy-exposed tumors. (cornell.edu)
In order to find common genetic abnormalities that may identify loci of genes involved in the development of adenoid cystic carcinoma (ACC), we investigated DNA copy number changes in 24 of these tumors by comparative genomic hybridization (CGH). (psu.edu)
A frequent novel finding was the loss of DNA copy number in chromosome 12q (eight tumors, 33%) with the minimal common overlapping region at 12q12-q13. (psu.edu)
Perivascular epithelioid cell tumors (PEComas) are a rare group of mesenchymal neoplasms characterized by the presence of histologically and immunohistochemically distinctive perivascular epithelioid cells [ 1 ], which can occur in any part of the body. (biomedcentral.com)

aCGH provides an understanding of genetic disorders, cancers and other genomic aberrations. (enzolifesciences.com)
In addition, there are only a small number of recurrent copy number aberrations and rare gene fusions. (springer.com)
The aim of the project is to improve the surveillance of patients with chromosome 6 aberrations and the support for their families by increasing the available information about these rare aberrations. (biomedcentral.com)

The researchers used an agnostic, genome-wide approach involving exome sequencing, exon-focused array comparative genomic hybridization and single-nucleotide polymorphism (SNP) genotyping to identify potentially pathogenic variants, most of which were identified using the Developmental Disorders Gene2Phenotype (DDG2P) database. (institut-servier.com)

The study of inherited disorders and the genetic alterations that are responsible for their complex array of disease symptoms has often resulted in the discovery of causative genes that play a role in cancer initiation," said NCI Director John E. Niederhuber, M.D. "The disease mutations found in this study in the DOCK8 gene exemplify that kind of important finding. (nih.gov)
Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT) beyond Mutations: A Comprehensive Genomic Analysis. (cornell.edu)
It uses NGS to gauge mutations in the coding regions of the genes of interest and confirms the findings by Sanger sequencing. (genomeweb.com)

Comparative genomic hybridization (aCGH) is a powerful diagnostic tool for detecting DNA copy number gains and losses associated with chromosome abnormalities. (enzolifesciences.com)
Array comparative genomic hybridization (aCGH) enables the detection of CNVs of single and multiple exons within a given gene (Tayeh et al. (preventiongenetics.com)
Patients with gross genomic imbalances in a region harboring one or more genes targeted on PreventionGenetics' HDGC aCGH, to confirm involvement of such gene(s). (preventiongenetics.com)

Array comparative genomic hybridization in patient one and patient two revealed copy-number variant (CNV) deletions, respectively, ~ 1.45 Mb in size involving FOXF1 and an ~ 0.7 Mb in size involving FOXF1 enhancer and leaving FOXF1 intact. (researchgate.net)
The identification of chromosome 1 translocations and deletions is a rare and poorly investigated event in chronic lymphocytic leukemia (CLL). (cancerindex.org)
Using quantitative PCR assays, the test gauges large deletions and duplications with BRCA1/2 and confirms the results by array comparative genomic hybridization. (genomeweb.com)
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)
Terminal 6q deletions are rare, and the number of well-defined published cases is limited. (biomedcentral.com)
Here, we report our findings on 93 individuals with terminal 6q deletions and 11 individuals with interstitial 6q26q27 deletions, a cohort that includes 38 newly identified individuals. (biomedcentral.com)
Based on our findings, we provide recommendations for clinical follow-up and surveillance of individuals with terminal 6q deletions. (biomedcentral.com)
As these deletions are rare, there is only limited information about their effect on the clinical phenotype. (biomedcentral.com)
3 ] described another 28 individuals with pure terminal 6q deletions diagnosed by conventional cytogenetic methods or array CGH, with all findings confirmed by FISH. (biomedcentral.com)

These include some of the recent findings from genome-wide association studies (GWASs) mostly with breast cancers. (hindawi.com)
The most common non-clear cell renal cancers have also undergone genomic profiling and are characterised by distinct genomic landscapes. (springer.com)
Correlation with outcome needs to be more comprehensively furnished, particularly for small renal masses, rarer non-clear cell renal cancers, and for all tumours undergoing targeted therapy. (springer.com)

1%) of individuals with clinical findings of the 22q11.2 deletion syndrome have chromosomal rearrangements involving 22q11.2, such as a translocation between chromosome 22 and another chromosome. (22q.org)
In contrast, international collection of detailed phenotypes lags behind the collection of genetic data because only a minority of rare chromosomal aberration cases are submitted to international databases like DECIPHER ( https://www.deciphergenomics.org ), and case reporting relies on health professionals having the time and willingness to submit information. (biomedcentral.com)

A few individuals with findings of the 22q11.2 deletion syndrome have normal routine cytogenetic studies and no deletion by FISH, MLPA, CGH or microarray. (22q.org)
Genomewide copy number screening using microarray-based comparative genomic hybridization (arrayCGH) revealed a microdeletion of 10q23.33q23.33, potentially implicating the cytochrome p450, subfamily XXVIA, polypeptide 1 ( CYP26A1 ) and cytochrome p450, subfamily XXVIC, polypeptide 1 ( CYP26C1 ) genes encoding retinoic acid (RA)-degrading enzymes as novel candidate genes for ONA. (molvis.org)

This was discovered using array comparative genomic hybridization, a DNA-based alternative for clinical evaluation of HER2 gene copy number. (wikipedia.org)
Karyotype and array comparative genomic hybridization were normal. (cdc.gov)
We conducted Whole Exome Sequencing in six SCCOHT, and RNA-sequencing and array comparative genomic hybridization in eight SCCOHT. (cornell.edu)
Using array-based comparative genomic hybridization (CGH), we determined the normal range of variation in CGH signals using normal controls. (endometriosi.it)

Based on the heterogeneity within a specific tumor type, a combination of genomic alterations defines the cancer subtype, biologic behavior, and in some cases, response to therapeutics. (hindawi.com)
Despite their aggressive clinical course, SCCOHT show remarkable inter-tumor homogeneity and display genomic stability, low mutation burden and few somatic copy number alterations. (cornell.edu)
Genomic alterations in the endometrium may be a proximate cause for endometriosis. (endometriosi.it)
Objective: To test the hypothesis that endometriosis may originate from genomic alterations in the endometrium by genomic analysis of endometrial tissues in patients with endometriosis and compare them with those from normal controls. (endometriosi.it)
Results: We identified several regions of genomic alterations in all five patients. (endometriosi.it)
For select markers, the genomic alterations were confirmed by real-time PCR and LOH analyses. (endometriosi.it)
Conclusions: There is evidence that the endometrium in women with endometriosis has genomic alterations. (endometriosi.it)

A New Complex Karyotype Involving a KMT2A-r Variant Three-Way Translocation in a Rare Clinical Presentation of a Pediatric Patient with Acute Myeloid Leukemia. (cancerindex.org)

SRY -negative cases of 46,XX testicular disorders of sex development referred for cytogenetic analysis from 1983 to 2013 were examined using clinical findings, seminal analyses, basal hormone profiles, conventional cytogenetic analysis and polymerase chain reaction. (e-kjgm.org)

Despite the provision of clinical genetic and genomic testing services across the United Kingdom and Ireland, these probands show how a genome-driven approach in combination with detailed phenotyping can improve diagnostic yield over the previous standard of care", they write. (institut-servier.com)
We divide the field of genomics into genotyping (focused on the genome sequence), transcriptomics (focused on genomic expression) and epigenomics (focused on epigenetic regulation of genome expression). (bmj.com)

A second class of inherited variants confers a lower risk, and these variants are also rare in the general population. (hindawi.com)
Unlike Myriad, however, Pathway and most other BRCA testing providers are contributing de-identified test data to ClinGen , an-NIH funded effort to build a public, annotated database of genomic variants using standardized classification methods. (genomeweb.com)
In total, 44% of the identified variants were in genes newly added to DDG2P, with each reanalysis finding approximately one additional variant for every six patient and parent trios (9859 patients also had genetic information from both parents). (institut-servier.com)
Our findings demonstrate that four-tier assessment of WES data is efficient and can detect novel candidate genes associated with hearing loss, in addition to pathogenic variants of known deafness genes. (biomedcentral.com)

Chromosome 17 polysomy may not be present when the centromere is amplified, so it was later discovered that polysomy 17 is rare. (wikipedia.org)
Sex reversal due to haploinsufficiency of DMRT1 gene in ring chromosome 9 structures is exceedingly rare with only a handful of cases ever reported. (biomedcentral.com)

Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry. (cdc.gov)
Genomic frontiers in congenital heart disease. (cdc.gov)
Congenital brain tumours are rare. (touchoncology.com)
Congenital gliosarcomas are extremely rare, with only a handful of cases being described in the literature. (touchoncology.com)
Optic nerve aplasia (ONA, OMIM #165550 ) is a very rare congenital anomaly that can be unilateral or bilateral. (molvis.org)

These findings are most consistent with frequent host-switching by the pollinators, leading to fig hybridization, even between distantly related clades. (nature.com)
Among the most consistent cytogenetics findings are fragile X and duplication of maternal 15q11-q13. (neurotransmitter.net)

Nonetheless, genomic assessment has a limited role in characterizing a primary melanoma, according to the NCCN. (medpagetoday.com)
Melanoma of the uveal tract (iris, ciliary body, and choroid), though rare, is the most common primary intraocular malignancy in adults. (cigna.com)

For this reason, we performed a fine-tuned interpretation of our DNA ploidy results and compared these to high-resolution comparative genomic hybridization (HR-CGH) outcome, by using the same samples. (biomedcentral.com)

Analysis results of 579 cases of genomic copy number variation sequencing of pregnant women in prenatal diagnosis. (cdc.gov)
Methods and Results: An extensive literature review was undertaken related to genetics, clinical findings and laboratory testing, clinical and behavioral assessments and summary of updated health-related information addressing the importance of early PWS diagnosis and treatment. (eurekaselect.com)
He thanked the regional and global specialized laboratories for their efforts to provide timely results of the genomic sequencing of wild polioviruses, and for their help in planning and monitoring polio eradication activities in the Region. (who.int)

Phyllodes tumours are rare fibroepithelial lesions. (hindawi.com)

Nongestational pure choriocarcinoma is so rare that the prognosis, chemo-sensitivity, and genetics analysis of nongestational type have not been decided compared with that of gestational type. (atlasgeneticsoncology.org)

Genetic studies have clarified that most microcephaly genes encode ubiquitous proteins involved in mitosis and in maintenance of genomic stability, but the effects of their inactivation are particularly strong in neural progenitors. (cancerindex.org)

Neonatal Wilms tumor is rare. (abdominalkey.com)
Wilms tumor is rare in adults ( 3 ). (abdominalkey.com)
The nongestational type is as a component of a mixed germ cell tumor and a pure ovarian choriocarcinoma is a very rare malignant tumor. (atlasgeneticsoncology.org)
For some of the genomic regions that are deleted in some neuroblastomas, on 1p, 3p and 11q, candidate tumor suppressor genes have been identified. (biomedcentral.com)
Perivascular epithelioid cell tumor (PEComa) occurring in the female genital tract are rare, and typically found in the uterine corpus. (biomedcentral.com)
This will help cytopathologists to recognize this rare tumor that occurred in the cervix, and the combination of predictive morphology evaluation, immunophenotype, and molecular testing can achieve the definitive diagnosis of PEComa. (biomedcentral.com)

Using a technique called comparative genomic hybridization, a process by which large amounts of DNA are fixed to a computer chip and analyzed for changes in the genes, scientists examined the genes in the tissue samples from five different groups: the 11 individuals with the unknown immunodeficiencies, people with the variant form of HIES, people with classic HIES, those with other immunological diseases, and healthy individuals. (nih.gov)
A summary of the major findings to date for these genes is in Table 1 and is discussed in what follows. (hindawi.com)
Negative association findings and research involving the serotonin transporter gene, FMR1, RELN, WNT2, HOXA1, and HOXB1 genes may be found elsewhere on this site . (neurotransmitter.net)
however, it is not suitable for detection of very rare or novel deafness genes. (biomedcentral.com)

They conclude: "Although much work remains to be done in improving genomic diagnostics and in understanding disease biology, it is clear that clinical genomics in medical practice is making a difference for patients with rare genetic disorders and their families and physicians. (institut-servier.com)
For couples experiencing recurrent miscarriages or failed IVF attempts, one option is Advanced Embryo Selection (AES) using Comparative Genomic Hybridisation (CGH) - an advanced technique used to test for genetic disorders. (cityfertility.com.au)

Multiple analyses of these genomic data suggest that hybridization events have occurred throughout Ficus evolutionary history. (nature.com)

He also noted concern regarding delays in referring specimens to the laboratory for testing, and emphasized the need for improvement in timeliness of reporting and tracking of the viruses referred for genomic sequencing. (who.int)

Patients with endometriosis were selected as the study group, and patients with normal laparoscopic findings functioned as the control group. (endometriosi.it)

Ways to abrogate heterogeneity will be required to optimise the genomic classification of tumours. (springer.com)
Not only has knowledge of the genomic landscape helped inform the development of new drugs, this understanding also promises to improve risk stratification of tumours and to determine their sensitivity to systemic therapies. (springer.com)

These findings and preliminary functional data support further exploration of epigenetic therapies in this lethal disease. (cornell.edu)
With optimized, proprietary reagents, the Enzo Life Sciences CGH Labeling Kits for oligo arrays produce high quality data using as little as 0.25 µg of genomic DNA, without a need for pre-amplification. (enzolifesciences.com)
In a linked editorial, Jennifer Posey and James Lupski, both from Baylor College of Medicine in Houston, Texas, USA, highlight this finding, saying: "The fact that a single genomic data set, iteratively reanalyzed, continues to provide molecular diagnoses years after the initial test is empowering for families with members who have rare disease. (institut-servier.com)
According to comparative genomic hybridization (CGH) data published in the literature, the simple and complex karyotypes show a correlation between the prognosis and clinical outcome. (biomedcentral.com)

Gupta, R.K. (2007) Needle aspiration cytology and immunohistologic findings in a case of leiomyosarcoma of the breast. (scirp.org)

SCC of the prostate is a rare malignant epithelial neoplasm arising in the prostate, with squamous differentiation of the neoplastic cells. (medscape.com)

Equal amounts of genomic DNA from the patient and a sex matched reference sample are amplified and labeled with Cy3 and Cy5 dyes, respectively. (preventiongenetics.com)

Seizures and perinatal stridor are rare signs and are typically seen only in the most severe cases. (medscape.com)
The aim of this study was to broaden the knowledge on this rare malignancy by reporting a comprehensive molecular analysis of an independent cohort of SCCOHT cases. (cornell.edu)
2004) Leiomyosarcoma of the breast: A pathologic and comparative genomic hybridization study of two cases. (scirp.org)
[ 12 ] Rare cases of primary pulmonary or pleural DSRCT have subsequently been identified. (medscape.com)
We report three rare cases of SRY -negative 46,XX testicular disorders of sex development. (e-kjgm.org)
PEComa occurring in the cervix is extremely rare, and very few cases have been reported till now. (biomedcentral.com)

XY sex reversal is a relatively rare type of DSD (disorder of sexual development). (biomedcentral.com)
Joubert syndrome and related disorders (JSRD) (OMIM 213300) is a rare neurological disorder with autosomal recessive or X-linked inheritance, characterized by neurological symptoms including hypotonia, ataxia, global developmental delay, abnormal eye movements, and breathing dysregulation [ 1 - 3 ]. (biomedcentral.com)

Hippocampal sclerosis (HS) is a common neuropathological finding and has been associated with advanced age, TDP-43 proteinopathy, and cerebrovascular pathology. (bvsalud.org)

In the event that a medically actionable copy number variant is identified in a gene not requested, we will reach out and discuss the findings with the ordering healthcare provider. (preventiongenetics.com)

Our findings also support the conclusion that hallucinations after administration of tryptamine analogues may be mediated by changes in glutamatergic neurotransmission. (osvaldonery.com)

Tetrasomy and hexasomy 8 are rare compared to trisomy 8, which is the most common karyotypic finding in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS). (wikipedia.org)

Optic nerve aplasia (ONA, OMIM 165550) is a very rare unilateral or bilateral condition that leads to blindness in the affected eye, and is usually associated with other ocular abnormalities. (molvis.org)

Ficus (figs) and their agaonid wasp pollinators present an ecologically important mutualism that also provides a rich comparative system for studying functional co-diversification throughout its coevolutionary history (~75 million years). (nature.com)

Background: Alveolar capillary dysplasia (ACD) is a rare cause of severe pulmonary hypertension and respiratory failure in neonates. (researchgate.net)

Key findings include infantile hypotonia, a poor suck, failure to thrive and hypogonadism/hypogenitalism. (eurekaselect.com)

These findings mean that individuals with this rare disease will be able to receive a more accurate diagnosis. (nih.gov)
Cytological diagnosis of cervical PEComa is even rarer. (biomedcentral.com)
Our finding indicated that a definitive diagnosis of PEComa can be rendered based on cytologic examination alone. (biomedcentral.com)

[ 9 ] A rare case of lung SCC with metastasis to the penis in a 74-year-old man with an extensive smoking history was reported by Miura and Yamamoto. (medscape.com)
We report a case of vertical transmission of TONV from a pregnant woman to her fetus and describe ultrasonographic and fetopathological findings. (cdc.gov)

Anatomy34

Organisms2

Diseases76

Chemicals and Drugs18

Analytical, Diagnostic and Therapeutic Techniques and Equipment48

Psychiatry and Psychology4

Phenomena and Processes112

Disciplines and Occupations4

Anthropology, Education, Sociology and Social Phenomena1

Information Science10

Named Groups1

Health Care6

Fluorescent in situ hybri3

Fluorescence4

Tumors7

Aberrations3

Single-nucleotide p1

Mutations3

ACGH3

Deletions9

Cancers3

Chromosomal2

Microarray2

Array4

Alterations7

Karyotype1

Cytogenetic1

Genome2

Variants4

Chromosome2

Congenital5

Consistent2

Melanoma2

Ploidy1

Results3

Lesions1

Genetics1

Inactivation1

Tumor6

Genes4

Genetic disorders2

Analyses1

Sequencing1

Patients1

Tumours2

Data4

Cytology1

Malignant1

Amounts1

Cases6

Disorder2

Pathology1

Copy1

Conclusion1

Acute myeloid1

OMIM1

Functional1

Pulmonary1

Include1

Diagnosis3

Case2