ChromosomesFetalCalled a karyotype analysisMicroarrayAbnormalitiesGeneticNeoplasmsDiagnosticNormalClinicalSerumCytogeneticSyndromeUltrasoundAnalysisTrisomyAndrogenSpermDiagnosisMeSHMutationsTissueCongenitalPatientsCasesUncommonDisorderResultsMiscarriageAcuteStandardTotalFindingsSpecificComplexApproximatelyCellsConfirmArray-basedSmall
Chromosomes10
- Karyotyping is a test to examine chromosomes in a sample of cells. (medlineplus.gov)
- In the process, chromosomal fusions occurred in the equidae, causing karyotypes to evolve that range from 66 to 32 chromosomes, whilst preserving the same amount of DNA. (ivis.org)
- Trisomy 21 may be diagnosed through direct analysis of fetal chromosomes, by karyotype or DNA microarray, obtained from amniocentesis, chorionic villus sampling, or percutaneous umbilical blood sampling. (cdc.gov)
- After photographing chromosomes under a microscope, researchers literally cut them up, like paper dolls, and arranged them according to size, thereby producing a karyotype. (laskerfoundation.org)
- Using yet newer techniques for detecting abnormal chromosomes (called spectral karyotyping), Rowley found a chromosomal rearrangement that characterizes one of the childhood leukemias, and her work continues. (laskerfoundation.org)
- The severity of the condition varies, depending on one's Down syndrome karyotype, which is the organized profile of an individual's chromosomes. (newhealthadvisor.org)
- The organized profile of an individual's chromosomes is known as a karyotype. (newhealthadvisor.org)
- The Down syndrome karyotype shows a total of 47 chromosomes instead of 46 (normally made up of 23 pairs of chromosomes). (newhealthadvisor.org)
- One of the causes of early miscarriage is an abnormal number of chromosomes . (coastalfertility.com)
- Mosaicism is not uncommon, however, with a separate cell line containing either a normal 46,XX or XY karyotype, or 46 chromosomes including a structurally rearranged X or Y. (winetourismday.org)
Fetal4
- The development of heart failure is seen by progressively higher cardiac output on fetal echocardiogram, finally with the development of hydrops (abnormal fluid collections in the chest and abdomen) and swelling of the skin, indicating severe heart failure. (connecticutchildrens.org)
- In 145 such fetuses the fetal karyotype and pregnancy outcome were examined in relation to the longitudinal diameter of the fetal bladder. (nih.gov)
- In order to determine whether there is a genetic cause for miscarriage, a karyotype on the fetal tissue and/or on blood from both parents may be ordered. (coastalfertility.com)
- Results demonstrated that women with normal fetal chromosomal karyotypes were more likely than women with abnormal fetal karyotypes to have a history of menstrual irregularity (47.1% vs. 8.3%), the presence of polycystic ovaries (41.2% vs. 8.3%), and elevated basal LH concentrations. (hormones.gr)
Called a karyotype analysis2
- This type of test is called a karyotype analysis. (sharedjourney.com)
- A genetic test called a karyotype analysis can confirm a Turner syndrome diagnosis. (winetourismday.org)
Microarray3
- While microarray testing can identify chromosomal abnormalities missed by karyotyping, its prenatal use is often avoided in low-risk pregnancies due to the possible identification of variants of uncertain significance (VOUS). (nih.gov)
- NEW YORK (GenomeWeb) - In a new study published late last week, CombiMatrix has reported its largest dataset to date showing that microarray analysis of more than 8,000 miscarriage samples yielded successful results more than 90 percent of the time, a significantly better performance than standard karyotyping approaches, which are known to fail up to 40 percent of the time. (genomeweb.com)
- Trilochan Sahoo, the company's vice president of clinical affairs and director of cytogenetics, told GenomeWeb this week that while the superior diagnostic power of chromosomal microarray analysis compared to karyotyping is well established in pediatric and prenatal testing spheres, there is still a relative lack of comprehensive evidence for the technology in the specific setting of miscarriage, or products of conception testing. (genomeweb.com)
Abnormalities11
- The criterion used for sample selection was the achievement of the karyotype of all patients affected by MR with major and/or minor structural abnormalities. (usp.br)
- Of the 505 individuals evaluated in three APAEs, a cytogenetic study was performed on 265 patients, and 61 chromosomal abnormalities were found (12.1% of the total and 23.0% of the selected karyotypes). (usp.br)
- In APAE of Batatais, karyotypes were performed on 174 of the 305 subjects studied, and we found 33 chromosomal abnormalities (10.8% of total). (usp.br)
- In APAE Serrana, 37 karyotypes were performed out of the 93 subjects studied, and 12 chromosomal abnormalities (12.9% of total) were found. (usp.br)
- Aneuploidies were detected in 7.3% and partial chromosome abnormalities in 0.45% (n = 13), including 5 referred for maternal age, abnormal maternal serum screen, or isolated ultrasound markers. (nih.gov)
- The added detection above karyotype was 1 in 745 in lower-risk cases with normal ultrasounds or isolated ultrasound markers/increased nuchal measurements and 1 in 165 for fetuses with structural/growth abnormalities. (nih.gov)
- Skeletal dysplasias, also known as osteochondrodysplasias, are a heterogeneous group of heritable disorders characterized by abnormalities of cartilage and bone growth, resulting in abnormal shape and size of the skeleton and disproportion of the long bones, spine, and head. (medscape.com)
- Objectives Acute myeloid leukemia (AML) is classified in part by recurrent cytogenetic abnormalities, often detected by both fluorescent in situ hybridization (FISH) and karyotype. (medscape.com)
- It is common practice for laboratories to use interphase fluorescence in situ hybridization (FISH) panels in conjunction with karyotyping for the detection of the most prognostically significant recurrent AML-associated cytogenetic abnormalities, both in diagnostic specimens and during follow-up to monitor response to therapy. (medscape.com)
- FISH is targeted toward specific abnormalities, and results can be evaluated in an automated fashion on interphase nuclei, allowing for examination of more cells than a traditional karyotype. (medscape.com)
- In addition, because the probe size is much smaller than the resolution provided by the banding pattern in karyotype, FISH can detect cryptic abnormalities not revealed by conventional karyotype. (medscape.com)
Genetic4
- Clinical diagnosis should be confirmed by genetic testing (typically, karyotype from infant's blood or tissue). (cdc.gov)
- Besides Down syndrome karyotype, there are other genetic conditions that result from abnormal karyotypes. (newhealthadvisor.org)
- The blood tests aim to detect any abnormal levels of certain hormones in the body, which can be an indicator of this genetic condition. (sharedjourney.com)
- Even if your genetic testing is completely normal, you will have some abnormal embryos. (sbivf.com)
Neoplasms1
- Therapy-related myeloid neoplasms with normal karyotype show distinct genomic and clinical characteristics compared to their counterparts with abnormal karyotype. (uchicago.edu)
Diagnostic6
- Diagnostic schemata recommend karyotype, pelvic ultrasound scan, testosterone, and dihydrotestosterone (DHT) concentrations with human chorionic gonadotropin (hCG) stimulation, gonadotrophin concentrations, and androgen receptor binding in genital skin fibroblasts. (bmj.com)
- CMA offers the highest diagnostic yield (approximately 15-20%) in individuals with unexplained DD/ID, ASD, and multiple congenital anomalies (MCAs) and is preferred to chromosome analysis (karyotyping). (arupconsult.com)
- The diagnostic yield varies by patient population and the presence of comorbidities, but is estimated to be approximately 15-20% (approximately 10% higher than the detection rate by karyotype analysis in the DD/ID/ASD population). (arupconsult.com)
- In terms of actual diagnostic results, Sahoo and his coauthors concede that very successful karyotype or extensive FISH testing would also be expected to detect the vast majority of the same genomic alterations that CombiMatrix identified in its analysis across these 8,000 samples. (genomeweb.com)
- Results Karyotype and FISH results were concordant in 193 (95.0%) of 203 diagnostic samples. (medscape.com)
- However, some recent studies have called into question whether FISH actually provides additional diagnostic information compared with karyotype, especially considering its significantly higher cost. (medscape.com)
Normal8
- Chemotherapy may cause chromosome breaks that affect normal karyotyping results. (medlineplus.gov)
- High-resolution karyotypes came back normal. (wikipedia.org)
- Samples were identified from three patients with normal karyotype and two positive controls with abnormal karyotype. (wustl.edu)
- Nine of the sixteen structural variants found in these cases by karyotype analysis were detected by Bionano, and a large number of additional variants were found both in the normal karyotype and in complex karyotype controls. (wustl.edu)
- The presence of both normal and abnormal cells (mosaic) is due to abnormal cell division after the egg is fertilized by the sperm. (newhealthadvisor.org)
- If both parents have a normal karyotype, it is likely that the miscarriage was a chance event and the couple should feel comfortable continuing to try to conceive. (coastalfertility.com)
- Among those, 53.7 percent had an abnormal result of some kind, 44.3 percent had a normal result, and 2 percent yielded variants of unknown significance. (genomeweb.com)
- In 10 cases, FISH detected an abnormality, but karyotype was normal. (medscape.com)
Clinical4
- If karyotype not available, check clinical signs on which diagnosis was based. (cdc.gov)
- Two patients with the clinical picture of Turner's syndrome showed a 46,XXp- and a 46,XXq- karyotype identified by a combination of fluorescence and autoradiography. (bmj.com)
- 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)
- Thus, it has higher analytic and, in certain circumstances, higher clinical sensitivity compared with karyotype. (medscape.com)
Serum1
Cytogenetic1
- Routine G-banded karyotype, array-based comparative genomic hybridization, and fluorescence in situ hybridization analyses were used to characterize the cytogenetic abnormality in the patient's bone marrow. (hindawi.com)
Syndrome11
- Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. (mayoclinic.org)
- Also called karyotype analysis, this test is used to confirm a diagnosis of Klinefelter syndrome. (mayoclinic.org)
- Each year, about 6,000 babies are born in the United States with Down syndrome, a disorder caused by abnormal cell division that results in an extra chromosome, specifically chromosome 21. (newhealthadvisor.org)
- What Are the Karyotypes of Down Syndrome? (newhealthadvisor.org)
- It also determines the sex of an individual and can help diagnose abnormal conditions such as the Down syndrome. (newhealthadvisor.org)
- The following image shows the Down syndrome karyotype of a patient with part of their chromosome 21 being translocated to another chromosome. (newhealthadvisor.org)
- METHODS A retrospective study of a register of cases of male undermasculinisation (20 with abnormal testes, eight with 5α-reductase deficiency, three with testosterone biosynthetic defects, seven with Drash syndrome, and 210 undiagnosed). (bmj.com)
- What is the karyotype for Turner's syndrome? (winetourismday.org)
- Turner syndrome is associated with a 45,X karyotype, with a single X chromosome . (winetourismday.org)
- In patients with abnormal karyotype ( n = 3), 1 had trisomy 18 (47,XX) and died after 3 months and 2 had different types of mosaic Turner syndrome. (who.int)
- Parmi les nouveau-nés présentant un caryotype anormal ( n = 3), l'un, souffrant de trisomie 18 (47,XX), est décédé à l'âge de trois mois, tandis que les deux autres enfants étaient atteints de différents types de syndrome de Turner en mosaïque. (who.int)
Ultrasound1
- an ultrasound at that time showed a fetus with abnormal clefts in the cerebral hemispheres of the brain (schizencephaly), with cleft walls separated and filled with cerebrospinal fluid (open lip). (cdc.gov)
Analysis2
- In this project, Dr. Christopher and his team tested whether optical mapping performed using the Bionano Saphyr platform (Bionano Genomics) could detect occult structural variants missed by standard karyotype analysis in AML patients who were refractory to chemotherapy. (wustl.edu)
- Karyotype analysis was performed by the G-banding technique. (hindawi.com)
Trisomy1
- In most affected patients, this karyotype is found in all cells (trisomy). (newhealthadvisor.org)
Androgen1
- In both cases, investigation of abnormal androgen production by the mother must be performed immediately after delivery. (health.am)
Sperm2
- It arises from abnormal cell division during the development of either the sperm or the egg. (newhealthadvisor.org)
- Karyotyping is only done if there is a specific problem that increases the risk that your karyotype is abnormal - like having two or more miscarriages or having a low sperm count. (sbivf.com)
Diagnosis4
- A karyotype should be performed as a part of the routine evaluation after the diagnosis of primary ovarian insufficiency is established. (medscape.com)
- An exaggerated response to LHRH stimulation was observed during mid-childhood in children where the diagnosis was not clear and in all children with abnormal testes. (bmj.com)
- The goal of this study was to assess the utility of FISH and karyotyping at diagnosis and follow-up. (medscape.com)
- Methods Adult AML samples at diagnosis or follow-up with karyotype and FISH were identified. (medscape.com)
MeSH1
- Karyotype" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (uchicago.edu)
Mutations1
- Scope includes mutations and abnormal protein expression. (cancerindex.org)
Tissue1
- Importantly, Sahoo said, the study confirmed what earlier Combimatrix data has demonstrated and what smaller studies have also suggested, which is that array-based miscarriage testing works effectively on preserved formalin-fixed paraffin-embedded tissue samples, not just the fresh samples required by traditional karyotyping. (genomeweb.com)
Congenital1
- In 46,XX karyotype patients ( n = 14), congenital adrenal hyperplasia and general malformation disorder were the most common causes of genital ambiguity, while in 46,XY karyotype patients ( n = 18), testosterone pathway biosynthetic defect was the most common cause even in conjunction with a generalized malformation disorder. (who.int)
Patients5
- Patients with childhood acute myeloid leukemia (AML) with complex karyotypes (CKs) have a dismal outcome. (cancerindex.org)
- However, for patients with a KMT2A rearrangement (KMT2A-r), the prognosis appears to depend on the fusion partner gene rather than the karyotype structure. (cancerindex.org)
- In patients with abnormal testes, median pre-LHRH (luteinising hormone releasing hormone) concentrations of LH and FSH were 2 and 6.4 U/l, respectively, and post-LHRH concentrations were 21 and 28 U/l. (bmj.com)
- Abnormal karyotypes (about half of the patients). (topgradeapp.com)
- The karyotype was undetermined in 6 patients. (who.int)
Cases2
- Abnormal karyotype - approximately 95% of cases result from chromosomal non-disjunction of chromosome 21 (47,XX,+21 or 47,XY,+21) at conception. (cdc.gov)
- During infancy, the LHRH stimulation test may be more reliable in identifying cases of male undermasculinisation due to abnormal testes than basal gonadotrophin concentrations. (bmj.com)
Uncommon1
- Conclusions Clinically significant discordance between karyotype and AML FISH is uncommon. (medscape.com)
Disorder1
Results3
- If karyotype available, report results. (cdc.gov)
- However, the issue is that karyotyping is not always "very successful," failing about 20 to 40 percent of the time due to the necessity of culturing live cells, and the risk of erroneous results due to maternal cell contamination. (genomeweb.com)
- Abnormal results were present in close to 49 percent of the FFPE samples, compared to 54 percent of the overall cohort of successfully tested samples. (genomeweb.com)
Miscarriage1
- The new study - authored by Sahoo, other CombiMatrix colleagues, and collaborators from several medical centers - did not directly compare karyotyping versus array-based testing in matched miscarriage samples. (genomeweb.com)
Acute2
- Entospletinib with decitabine in acute myeloid leukemia with mutant TP53 or complex karyotype: A phase 2 substudy of the Beat AML Master Trial. (uchicago.edu)
- Prognostic Significance of Complex Karyotypes in Acute Myeloid Leukemia. (uchicago.edu)
Standard1
- Back-up cell cultures were established and standard karyotypes performed either in our lab or elsewhere for all samples. (usda.gov)
Total2
- In Altinópolis, 54 karyotypes were performed out of the 107 subjects studied, and we observed 16 abnormal karyotypes (14.9% of total). (usp.br)
- This graph shows the total number of publications written about "Karyotype" by people in this website by year, and whether "Karyotype" was a major or minor topic of these publications. (uchicago.edu)
Findings1
- The Xg findings in case 1 indicated that the abnormal X chromosome was of paternal origin. (bmj.com)
Specific1
- When combined with karyotyping, this assay provides increased interrogation of specific chromosomal regions, while limiting VOUS identification. (nih.gov)
Complex1
- TP53 mutation defines a unique subgroup within complex karyotype de novo and therapy-related MDS/AML. (uchicago.edu)
Approximately1
- Approximately one-quarter of these children are born with hypertrophic cardiomyopathy, a disease characterized by abnormal thickening of the heart's pumping chambers. (archildrens.org)
Cells1
- Autoradiography showed that the abnormal X chromosome was indicated in most cells. (bmj.com)
Confirm1
- Karyotype tests should be repeated to confirm that an abnormal chromosome problem is actually in the body of the person. (medlineplus.gov)
Array-based1
- Considering those issues, the 90 percent success rate CombiMatrix saw in its 44 months of array-based testing demonstrates a clear improvement over traditional karyotyping. (genomeweb.com)
Small1
- Radiographs demonstrate abnormal pelvis with small square iliac wings, horizontal acetabular roofs, and narrowing of the greater sciatic notch, an oval translucent area at the proximal ends of the femora, caudal narrowing of the interpedicular distances in the lumbar region, short pedicles, and lumbar lordosis. (medscape.com)