The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. 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).
Sex Chromosome Aberrations
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
In Situ Hybridization, Fluorescence
Pregnancy Trimester, First
Chromosomes, Human, Pair 18
Leukemia, Myeloid, Acute
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
Chromosomes, Human, Pair 8
Pregnancy Trimester, Second
A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.
A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)
Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.
A technique for visualizing CHROMOSOME ABERRATIONS using fluorescently labeled DNA probes which are hybridized to chromosomal DNA. Multiple fluorochromes may be attached to the probes. Upon hybridization, this produces a multicolored, or painted, effect with a unique color at each site of hybridization. This technique may also be used to identify cross-species homology by labeling probes from one species for hybridization with chromosomes from another species.
Metacentric chromosomes produced during MEIOSIS or MITOSIS when the CENTROMERE splits transversely instead of longitudinally. The chromosomes produced by this abnormal division are one chromosome having the two long arms of the original chromosome, but no short arms, and the other chromosome consisting of the two short arms and no long arms. Each of these isochromosomes constitutes a simultaneous duplication and deletion.
A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).
Chromosomes, Human, 6-12 and X
The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)
Chromosomes, Human, X
Chorionic Villi Sampling
Chromosomes, Human, 16-18
Chromosomes, Human, Y
Chromosomes, Human, Pair 13
Nuchal Translucency Measurement
fms-Like Tyrosine Kinase 3
Chromosomes, Human, Pair 5
Chromosomes, Human, 21-22 and Y
Disorders of Sex Development
In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of GONADAL HORMONES in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included.
Chromosomes, Human, Pair 21
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Chromosomes, Human, Pair 7
Gonadal Dysgenesis, 46,XY
Defects in the SEX DETERMINATION PROCESS in 46, XY individuals that result in abnormal gonadal development and deficiencies in TESTOSTERONE and subsequently ANTIMULLERIAN HORMONE or other factors required for normal male sex development. This leads to the development of female phenotypes (male to female sex reversal), normal to tall stature, and bilateral streak or dysgenic gonads which are susceptible to GONADAL TISSUE NEOPLASMS. An XY gonadal dysgenesis is associated with structural abnormalities on the Y CHROMOSOME, a mutation in the GENE, SRY, or a mutation in other autosomal genes that are involved in sex determination.
Nucleolus Organizer Region
Chromosomes, Human, Pair 11
Chromosomes, Human, 4-5
Chromosomes, Human, Pair 22
Chromosomes, Human, 1-3
A number of syndromes with defective gonadal developments such as streak GONADS and dysgenetic testes or ovaries. The spectrum of gonadal and sexual abnormalities is reflected in their varied sex chromosome (SEX CHROMOSOMES) constitution as shown by the karyotypes of 45,X monosomy (TURNER SYNDROME); 46,XX (GONADAL DYSGENESIS, 46XX); 46,XY (GONADAL DYSGENESIS, 46,XY); and sex chromosome MOSAICISM; (GONADAL DYSGENESIS, MIXED). Their phenotypes range from female, through ambiguous, to male. This concept includes gonadal agenesis.
Turner syndrome isochromosome karyotype correlates with decreased dental crown width. (1/42)(+info)
Altered patterns of differentiation in karyotypically abnormal human embryonic stem cells. (2/42)(+info)
Classifying cytogenetics in patients with acute myelogenous leukemia in complete remission undergoing allogeneic transplantation: a Center for International Blood and Marrow Transplant Research study. (3/42)(+info)
Clinical diagnostic testing for the cytogenetic and molecular causes of male infertility: the Mayo Clinic experience. (4/42)(+info)
Mesenchymal stromal cells of myelodysplastic syndrome and acute myeloid leukemia patients have distinct genetic abnormalities compared with leukemic blasts. (5/42)(+info)
Maternally inherited partial monosomy 9p (pter --> p24.1) and partial trisomy 20p (pter --> p12.1) characterized by microarray comparative genomic hybridization. (6/42)(+info)
Inflammatory cytokines in maternal circulation and placenta of chromosomally abnormal first trimester miscarriages. (7/42)(+info)
Allele-specific copy number analysis of tumor samples with aneuploidy and tumor heterogeneity. (8/42)(+info)
Y-Chromosome Microdeletion - How is Y-Chromosome Microdeletion abbreviated?
YCMD - Y-Chromosome Microdeletion. Looking for abbreviations of YCMD? It is Y-Chromosome Microdeletion. Y-Chromosome Microdeletion listed as YCMD
Abnormal Karyotype in Single Reported Female Patient Causes & Reasons - Symptoma
Abnormal Karyotype in Single Reported Female Patient Symptom Checker: Possible causes include Syndesmodysplasic Dwarfism. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
Prognosis of acute myeloid leukemia harboring monosomal karyotype in patients treated with or without allogeneic hematopoietic...
To evaluate the prognostic impact of monosomal karyotype on post-remission outcome in acute myeloid leukemia, we retrospectively analyzed 2,099 patients who had achieved complete remission. Monosomal karyotype was noted in 73 patients (4%). Of them, the probability of overall survival from first complete remission was 14% at 4 years, which was significantly inferior to that in patients without monosomal karyotype, primarily due to a high relapse rate of 86%. Monosomal karyotype remained significantly associated with worse overall survival among patients with unfavorable cytogenetics or complex karyotype, and even in patients who underwent allogeneic hematopoietic cell transplantation during first complete remission. These findings confirm that monosomal karyotype has a significantly adverse effect on post-remission outcome in patients with acute myeloid leukemia treated with and without allogeneic hematopoietic cell transplantation in first complete remission, emphasizing the need for the ...
Hematopoietic Cell Transplantation Outcomes in Monosomal Karyotype Myeloid Malignancies<...
TY - JOUR. T1 - Hematopoietic Cell Transplantation Outcomes in Monosomal Karyotype Myeloid Malignancies. AU - Pasquini, Marcelo C.. AU - Zhang, Mei Jie. AU - Medeiros, Bruno C.. AU - Armand, Philippe. AU - Hu, Zhen Huan. AU - Nishihori, Taiga. AU - Aljurf, Mahmoud D.. AU - Akpek, Görgün. AU - Cahn, Jean Yves. AU - Cairo, Mitchell S.. AU - Cerny, Jan. AU - Copelan, Edward A.. AU - Deol, Abhinav. AU - Freytes, César O.. AU - Gale, Robert Peter. AU - Ganguly, Siddhartha. AU - George, Biju. AU - Gupta, Vikas. AU - Hale, Gregory A.. AU - Kamble, Rammurti T.. AU - Klumpp, Thomas R.. AU - Lazarus, Hillard M.. AU - Luger, Selina M.. AU - Liesveld, Jane L.. AU - Litzow, Mark R.. AU - Marks, David I.. AU - Martino, Rodrigo. AU - Norkin, Maxim. AU - Olsson, Richard F.. AU - Oran, Betul. AU - Pawarode, Attaphol. AU - Pulsipher, Michael A.. AU - Ramanathan, Muthalagu. AU - Reshef, Ran. AU - Saad, Ayman A.. AU - Saber, Wael. AU - Savani, Bipin N.. AU - Schouten, Harry C.. AU - Ringdén, Olle. AU - Tallman, ...
Hematopoietic Cell Transplantation Outcomes in Monosomal Karyotype Myeloid Malignancies - Fingerprint - Mayo Clinic
Thomas R. Klumpp, Hillard M. Lazarus, Selina M. Luger, Jane L. Liesveld, Mark R. Litzow, David I. Marks, Rodrigo Martino, Maxim Norkin, Richard F. Olsson, Betul Oran, Attaphol Pawarode, Michael A. Pulsipher, Muthalagu Ramanathan, Ran Reshef, Ayman A. Saad, Wael Saber, Bipin N. Savani, Harry C. Schouten, Olle Ringdén, Martin S. Tallman, Geoffrey L. Uy, William A. Wood, Baldeep Wirk, Waleska S. Pérez, Minoo Batiwalla, Daniel J. Weisdorf ...
No Association of Androgen Receptor GGN Repeat Length Polymorphism With Infertility in Indian Men - Rajender - 2013 - Journal...
Hsing AW, Gao YT, Wu G., Wang X., Deng J., Chen YL, Sesterhenn IA, Mostofi FK, Benichou J., Chang C.. Polymorphic CAG and GGN repeat lengths in the androgen receptor gene and prostate cancer risk: a population-based case-control study in China. Cancer Res. 2000;60: 5111-5116 ...
Replication timing - Wikipedia
At present, very little is known about either the mechanisms orchestrating the timing program or its biological significance. However, it is an intriguing cellular mechanism with links to many poorly understood features of the folding of chromosomes inside the cell nucleus. All eukaryotes have a timing program, and this program is similar in related species. This indicates that it is either important itself, or something important influences the program. It is unlikely that replicating DNA in a specific temporal order is necessary simply for the basic purpose of duplicating a DNA molecule. More than likely, it is related to some other chromosomal property or function. Replication timing is correlated with the expression of genes such that the genetic information being utilized in a cell is generally replicated earlier than the information that is not being used. We also know that the replication-timing program changes during development, along with changes in the expression of ...
The Telegraph - Calcutta
There seems to be no solution in sight to the mystery of Mithun Koley till he gains consciousness. The 22-year-old has been lying in a coma ever since he was found in the Nilratan Sircar Medical College and Hospital compound on Thursday. Both the state and Calcutta police have started separate investigations into the incident, but none has been able to make any headway yet. The son of Ashim Koley, a businessman of Dum Dum, had gone missing on Monday and was picked up from behind the gynaecological department building on Thursday with his face smashed beyond recognition. He is battling for his life in the intensive care unit of a Salt Lake nursing home.. Mithun has suffered multiple injuries on the head, neck, shoulder, arms and legs. It seems he was severely beaten up. There was also an attempt to strangle him, said Ajay Nand, additional superintendent of police, Salt Lake, on Saturday. A clear picture will emerge only after he regains consciousness. Officer-in-charge of Entally police station ...
iAH Search interface 2.4 - Results of the search |page 1|
Bhattacharyya, H K et al. Changes in Mithun (Bos frontalis) spermatozoa during epididymal passage. J. S. Afr. Vet. Assoc., 2010, vol.81, no.2, p.80-81. ISSN 1019- ...
Hotline - Adweek
CHICAGO-H&R Block has shifted national broadcast buying duties to its creative shop, Interpublic Groups Campbell Mithun, Minneapolis. The client spent $35 million on national broadcast in 2001, according to CMR, but Block has said that it plans to spend $100 million on marketing in 2002 [Adweek, Jan. 28]. CM won creative and media planning duties on the account two years ago, but WPP Groups Mediaedge:cia retained media buying at the time. Buying duties will be divided among CM, its subsidiary Cash Plus, and sister Magna Global, a CM representative said. H&R Block executives could not be reached ...
TAHADER KATHA - DVD
TAHADER KATHA - DVD, (with English Subtitles) Dir: Buddhadeb Dasgupta Music: Biswadeb Dasgupta Cast: Mithun Chakarabarty, Dipankar Dey, Anusua Majumdar Produced by : MAX
Tropical Parasitology : Table of Contents
Mohammad Shadab,Sonali Das,Anindyajit Banerjee,Roma Sinha,Mohammad Asad,Mohd Kamran,Mithun Maji,Baijayanti Jha,Makaraju Deepthi,Manoharan Kumar,Abhishek Tripathi,Bipin Kumar,Saikat Chakrabarti,Nahid Ali ...
Population-Based Screening for Trisomies and Atypical Chromosomal Abnormalities - Research - Rigshospitalet
AIM: To examine the performance of the combined First Trimester Screening (cFTS) algorithm when outliers of 4 risk parameters (maternal age, nuchal translucency (NT) thickness, PAPP-A and β-hCG) were included in the classification of high-risk.. METHODS: A retrospective analysis of singleton pregnancies undergoing cFTS between 2008 and 2011 in Denmark. Abnormal karyotypes were classified as trisomy 21 (T21), trisomy 13 (T13) and trisomy 18 (T18), sex chromosome aberrations and atypical abnormal karyotypes.. RESULTS: cFTS was completed in 193,638 pregnancies. In 10,205 (5.3%) cases, cytogenetic or molecular analysis was performed pre- or postnatally. An abnormal karyotype was seen in 1,122 (11.0%). The algorithm identified 87% of T21, 80% of T13, 75% of T18, 79% of sex chromosome aberrations and 35% of atypical abnormal karyotypes. Additional classification of a single risk parameter outlier (low PAPP-A or free β-hCG (, 0.2 MoMs), high β-hCG (≥5.0 MoMs), maternal age ≥45 years or NT ...
Down Syndrome Karyotypes Explained Crystal Clear | New Health Advisor
Down syndrome karyotype shows a total of 47 instead of the usual 46 chromosomes in all or some of the body cells. Know 7 common abnormal karyotypes here!
Sujay Khanra: Times of India Reporter
Article. Two undertrials escape from Midnapore prison. Dec 1, 2020 Two undertrial prisoners, who were transferred from the Dum Dum Correctional Home, escaped from Midnapore Correctional Home on Monday. The duo, identified as Mithun Das (35) and Manojit Biswas alias Raju (31), were found missing when the correctional home officials were taking attendance on Monday evening. ...
HT1080 karyotype: post #1
HT1080 karyotype - posted in Tissue and Cell Culture: Hi everyone, how many copies of Chromosome 7 does the HT1080 cell line contain? Ive asked ATCC, but they seem to be totally ignorant. Is there a directory with the expected karyotype of such a cell line? Your help is highly appreciated. Thanks!
Karyotypes can be studied to determine an organis... - OpenStudy
Karyotypes can be studied to determine an organisms chromosomal makeup and to detect genetic defects. Down syndrome is a genetic disorder that is al...
Quiz & Worksheet - Karyotypes | Study.com
What are karyotypes and what information do they tell about an organisms chromosomes? The questions in this interactive quiz and printable...
Karyotype of Chironomussolitus. hsolA1.1, psolB1. | Open-i
Karyotype of Chironomussolitus. hsolA1.1, psolB1.1 ets.-genotypic combinations of banding sequences in chromosomal arms; N - nucleolus; BR - Balbian
What can a student learn about by studying a karyotype? | Reference.com
Karyotype is a test used by medical professionals to determine whether or not a person has a genetic defect. The test involves pairing up pictures of chromosomes to see if there are any...
Statistical behavior of complex cancer karyotypes
Epithelial tumors commonly show complex and variable karyotypes that obscure the identification of general patterns of the karyotypic evolution. To overcome some of these problems, we previously systematically analyzed the accumulated cytogenetic data from individual tumor types by using various sta …
Monosomal karyotype in Philadelphia chromosome-negative acute lymphoblastic leukemia<...
TY - JOUR. T1 - Monosomal karyotype in Philadelphia chromosome-negative acute lymphoblastic leukemia. AU - Kenderian, S. S.. AU - Al-Kali, A.. AU - Gangat, N.. AU - Letendre, L.. AU - Hogan, W. J.. AU - Litzow, M. R.. AU - Patnaik, M. M.. N1 - Copyright: Copyright 2013 Elsevier B.V., All rights reserved.. PY - 2013/7. Y1 - 2013/7. UR - http://www.scopus.com/inward/record.url?scp=84880877717&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=84880877717&partnerID=8YFLogxK. U2 - 10.1038/bcj.2013.21. DO - 10.1038/bcj.2013.21. M3 - Letter. C2 - 23832069. AN - SCOPUS:84880877717. VL - 3. JO - Blood Cancer Journal. JF - Blood Cancer Journal. SN - 2044-5385. IS - 7. ER - ...
Hyperolius discodactylus | Semantic Scholar
Information on karyotypes of several species of Üié frog genera Adenomera and Leptodactylus recently has become available. Bogart… Expand ...
Frequent induction of chromosomal aberrations in in vivo skin fibroblasts after allogeneic stem cell transplantation: hints to...
We herein describe the time-dependent development of cytogenetic damage induced in skin fibroblasts after conditioning with high-dose chemotherapy and TBI and allogeneic SCT in a larger cohort of patients with a long term follow-up.. The percentage of cells with an aberrant karyotype in our study was significantly higher at all time points after high-dose conditioning compared to the biopsies taken before conditioning. Genetic damage occurred early, because most metaphases from biopsies taken 3 months after SCT already presented an aberrant karyotype.. It is unlikely, that all these aberrations developed ex vivo in culture, because most skin metaphases were normal before SCT. In the literature there is only one small series of four pediatric patients after TBI or total lymphoid irradiation, where authors found 49 to 88 % aberrant metaphases in the skin biopsies taken within radiotherapy fields . A few case reports have also been published describing chromosomal aberrations in skin ...
Science and Reason: Embryonic stem cell differentiaton
Microscopy studies have suggested that chromosomal DNA is composed of multiple, megabase-sized segments, each replicated at different times during S-phase of the cell cycle. However, a molecular definition of these coordinately replicated sequences and the stability of the boundaries between them has not been established. We constructed genome-wide replication-timing maps in mouse embryonic stem cells, identifying multimegabase coordinately replicated chromosome segments-replication domains-separated by remarkably distinct temporal boundaries. These domain boundaries were shared between several unrelated embryonic stem cell lines, including somatic cells reprogrammed to pluripotency (so-called induced pluripotent stem cells). However, upon differentiation to neural precursor cells, domains encompassing approximately 20% of the genome changed their replication timing, temporally consolidating into fewer, larger replication domains that were conserved between different neural precursor cell ...
Cytogenetic Studies and Their Clinical Correlates in Adults with Acute Leukemia | Annals of Internal Medicine | American...
Cytogenetic studies were performed in 95 adults with acute leukemia, 39 (41%) of whom had abnormal karyotypes in their leukemic cells. The karyotypes were grouped according to the Denver-Chicago classification, and abnormalities were correlated with clinical variables. The frequency and quality of abnormality was not influenced by age, morphologic type of leukemia, or prior treatment. The frequency of abnormal karyotypes was increased in patients with increasing leukocytosis. Hypodiploidy adversely affected response to treatment and survival. D or E group chromosome deletions were associated with a decreased response to treatment and survival, whereas patients with extra D or E chromosomes had an improved prognosis. The overall distribution of chromosomal abnormalities in the leukemic cells deviated significantly from the expected for random distribution. D+, E+, and G- abnormalities were significantly more frequent than expected. Patients with marrow leukemic cell aneuploidy showed a loss of ...
Improved outcome in acute myeloid leukemia patients enrolled in clinical trials: A national population-based cohort study of...
https://doi.org/10.18632/oncotarget.12495 Lene Sofie Granfeldt Østgård, Mette Nørgaard, Henrik Sengeløv, Bruno C. Medeiros, Lars Kjeldsen, Ulrik Malthe Overgaard, Marianne Tang Severinsen, Claus...
Karyotype Genetic Testing - Clinician - Ambry Genetics
A karyotype is a test to evaluate the size, shape, and number of chromosomes. Extra or missing chromosomes, or abnormal positions of chromosome pieces, can cause problems with growth, development, and body functions. A karyotype is often a helpful test to determine the genetic contribution to a constellation of medical and/or developmental problems ...
Karyotype | Define Karyotype at Dictionary.com
Karyotype definition, the chromosomes of a cell, usually displayed as a systematized arrangement of chromosome pairs in descending order of size. See more.
Webinar Replay: Finding the Right AML Treatment for Me | Patient Power
What is personalized medicine, and how can it help AML (acute myeloid leukemia) patients? At the 2017 ASH (American Society of Hematology), AML experts share an update.
Karyotype Test | Cigna
Karyotype is a test to identify and evaluate the size, shape, and number of chromosomes in a sample of body cells. Extra or missing chromosomes, or abnormal positions of chromosome pieces, can cause problems with a persons growth, development, and body functions.
70367966779 - Nativity Worksheets Ks2 Excel Making Numbers Worksheets Word with Old And New Toys Worksheet Biology Karyotype...
70367966779 - Nativity Worksheets Ks2 Excel Making Numbers Worksheets Word with Old And New Toys Worksheet Biology Karyotype Worksheet Pdf
Reference Summary - Vitturi, R. and F. Lafargue, 1992
Vitturi, R. and F. Lafargue, 1992. Karyotype analyses reveal inter-individual polymorphism and association of nucleolus-organizer-carrying chromosomes in Capros aper (Pisces: Zeiformes). Mar. Biol. 112:37-41 ...
Window 63 - Tune Smithy
Click for help for this window. Or F1. Other opts: Shift , Alt, Ctrl + click... F1 or click shows the help for the current window in your web browser. Some windows may have no help yet in which case the help icon is shown crossed out with a red line. Shift + F1 or Shift + Click brings up the tool tips extra help window (this window) to show any extra help for a tool tip. You can tell if a tool tip has extra help if it ends ... like this one. Ctrl + F1 or Ctrl + click takes you to the list of keyboard shortcuts for Tune Smithy. Alt + F1 or Alt + click (alternatively Caps lock physically held down + F1 or Click) takes you to the on-line page at the robertinventor.com web site about the current main window task - which gives a short introduction to it for newbies to the program. If there is no on-line page specific to a task, takes you to the main tune smithy page on the web site. Since the help for Tune Smithy is currently a bit out of date and needs to be redone completely for the new 3.0 ...
TxCell snapped up by Sangamo - European Biotechnology
US gene editing expert Sangamo Therapeutics is set to acquire French biotech TxCell in an all-cash buyout of €72m on a debt- and cash-free basis.
Food, Feeding Habits of Mithun (Bos frontalis) in Protected Area of Nagaland
The study of food and feeding habits of Bos frontalis was aimed at extracting information regarding the conservation of Mithun (Bos Frontalis) whose population are declining at fast pace even with the distinct title of State animal of Nagaland and also their feeding habits. The main food preference of Bos frontalis were the leaf parts of the plants. The data showed that the leaf part of the plants were preferred by Bos frontalis almost 80% of the plant species the whole plant parts which consists of plant species where the leaves twigs and shoots were feed on by Bos frontalis. A total of 39 species of plants were found to have been feed on by Bos frontalis and the study found that leaf parts of the plants were preferred more by Bos frontalis over other parts of the plants. The whole plant preference were the second highest from all the plant species found in protected areas of Nagaland, the rest of the plant parts consisting of twigs and shoots were preferred less by Bos frontalis. The data also
Rxivist: CytoGPS: A Web-Enabled Karyotype Analysis Tool for Cytogenetics
Karyotype data are the most common form of genetic data that is regularly used clinically. They are collected as part of the standard of care in many diseases, particularly in pediatric and cancer medicine contexts. Karyotypes are represented in a unique text-based format, with a syntax defined by the International System for human Cytogenetic Nomenclature (ISCN). While human-readable, ISCN is not intrinsically machine-readable. This limitation has prevented the full use of complex karyotype data in discovery science use cases. To enhance the utility and value of karyotype data, we developed a tool named CytoGPS. CytoGPS first parses ISCN karyotypes into a machine-readable format. It then converts the ISCN karyotype into a binary Loss-Gain-Fusion (LGF) model, which represents all cytogenetic abnormalities as combinations of loss, gain, or fusion events, in a format that is analyzable using modern computational methods. Such data is then made available for comprehensive downstream analyses that ...
Fluorescence in situ hybridization improves the detection of 5q31 deletion in myelodysplastic syndromes without cytogenetic...
It is interesting to note that in our series a high percentage of the cases of 5q- detected by FISH were in those cases without mitoses or which were not evaluable (20.4%). This might be because the 5q- clone could have a low proliferation and a high apoptotic rate. Nevertheless, when Washington et al. studied apoptosis in 5q- syndrome and other RA, they found significantly lower rates of apoptosis in bone marrow cells isolated from patients with 5q- syndrome than in the cells from patients with other RA.23 Our hypothesis about the proliferation and the apoptotic rate of cells with 5q- is speculation based on our findings comparing cytogenetics and FISH results and further studies are needed to understand the behavior of cells that carry the 5q deletion.. It is noteworthy that nine cases with an abnormal karyotype involving chromosome 5 were found to have the 5q31 deletion when studied by FISH. Indeed, in our series we have six cases with a complex karyotype that showed monosomy 5. Five ...
A transcriptional and metabolic signature of primary aneuploidy is present in chromosomally unstable cancer cells and informs...
Aneuploidy is invariably associated with poor proliferation of primary cells, but the specific contributions of abnormal karyotypes to cancer, a disease characterized by aneuploidy and dysregulated proliferation, remain unclear. In this study, I demonstrate that the transcriptional alterations caused by aneuploidy in primary cells are also present in chromosomally unstable cancer cell lines, but the same alterations are not common to all aneuploid cancers. Chromosomally unstable cancer lines and aneuploid primary cells also share an increase in glycolytic and TCA cycle flux. The biological response to aneuploidy is associated with cellular stress and slow proliferation, and a 70-gene signature derived from primary aneuploid cells was defined as a strong predictor of increased survival in several cancers. Inversely, a transcriptional signature derived from clonal aneuploidy in tumors correlated with high mitotic activity and poor prognosis. Together, these findings suggested that there are two ...
Foetal Cord Blood Karyotype Blood in Gurgaon Sector 45, Gurgaon. View Prices, Labs & Book online only on | Practo
Find all Foetal Cord Blood Karyotype Blood Labs in Gurgaon Sector 45,Gurgaon. Now View Prices, Normal Range, Sample Results & Book Online for Foetal Cord Blood Karyotype Blood Labs in Gurgaon Sector 45 Gurgaon only on | Practo
Foetal Cord Blood Karyotype Blood in Hari Nagar, Gurgaon. View Prices, Labs & Book online only on | Practo
Find all Foetal Cord Blood Karyotype Blood Labs in Hari Nagar,Gurgaon. Now View Prices, Normal Range, Sample Results & Book Online for Foetal Cord Blood Karyotype Blood Labs in Hari Nagar Gurgaon only on | Practo
A single-center, randomized, clinical study of a single dose of peg-rhG-CSF compared with daily rhG-CSF for supporting...
This study will be comparing the days of neutrophil recovery ,infection rate, admission time in Acute myeloid leukemia patients treated by pegfilgrastim or
Karyotype Analyses of four Astragalus L. species from Turkey | AVESİS
Copy For Citation Martin E., Duran A., Dinç M., Babaoğlu M., ERİŞEN S. The 7th Plant Life of Southwest Asia Symposium, Eskişehir, Turkey, 25 June 2007, vol.11, no.2, pp.1 ...
Complex Karyotype, TP53 Mutations Associated With HCT Outcomes in Myelodysplasia - Cancer Therapy Advisor
Based on the results of this study, an alternative to HCT should be considered for patients with CK and mutations in TP53 or the RAS pathway.
TET2 mutation is an unfavorable prognostic factor in acute myeloid leukemia patients with intermediate-risk cytogenetics | NTU...
臺大位居世界頂尖大學之列，為永久珍藏及向國際展現本校豐碩的研究成果及學術能量，圖書館整合機構典藏（NTUR）與學術庫（AH）不同功能平台，成為臺大學術典藏NTU scholars。期能整合研究能量、促進交流合作、保存學術產出、推廣研究成果。. To permanently archive and promote researcher profiles and scholarly works, Library integrates the services of NTU Repository with Academic Hub to form NTU Scholars.. ...
Detectable Clonal Mosaicism from Birth to Old Age and its Relationship to Cancer
Clonal mosaicism for large chromosomal anomalies (duplications, deletions and uniparental disomy) was detected using SNP microarray data from over 50,000 subjects recruited for genome-wide association studies. This detection method requires a relatively high frequency of cells (,5-10%) with the same abnormal karyotype (presumably of clonal origin) in the presence of normal cells. The frequency of detectable clonal mosaicism in peripheral blood is low (,0.5%) from birth until 50 years of age, after which it rises rapidly to 2-3% in the elderly. Many of the mosaic anomalies are characteristic of those found in hematological cancers and identify common deleted regions that pinpoint the locations of genes previously associated with hematological cancers. Although only 3% of subjects with detectable clonal mosaicism had any record of hematological cancer prior to DNA sampling, those without a prior diagnosis have an estimated 10-fold higher risk of a subsequent hematological cancer (95% confidence ...
First karyotype data on the family Myerslopiidae (Hemiptera, Auchenorrhyncha, Cicadomorpha)
In the first cytogenetic study of the recently proposed family Myerslopiidae the male karyotype of Mapuchea chilensis (Nielson, 1996) was analyzed using conventional chromosome staining, AgNOR- and C-bandings, and fluorescence in situ hybridization (FISH) with 18S rDNA and (TTAGG)n telomeric probes. A karyotype of 2n = 16 + XY, NOR on a medium-sized pair of autosomes, subterminal location of C-heterochromatin, and presence of (TTAGG)n telomeric sequence were determined. Additionally, the male internal reproductive system was studied.
What was the case number of the students karyotype? what, Ask an Expert
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2008 Study Sheet 36 - List On the back of this sheet 1 List one method of obtaining cells from a fetus for a karyotype Short...
View Notes - 2008_Study_Sheet_36 from BIOLOGY honors at Saint Marys College Indiana. List. On the back of this sheet, 1. List one method of obtaining cells from a fetus for a karyotype. Short Answer.
Normal Female Karyotype - The Endo Zone
A different kind of TWW---for my karyotyping blood work results to come in---is done. A few weeks ago I had a recurrent miscarriage panel drawn at my REs office. It was done more as a formality, IMO. Something Dr. C figured would appease me. There was some confusion when a new girl in my REs office…
CYTOGENETICS Peripheral blood conventional karyotype Collect 6cc blood from the patient using blood collection tubes containing dry heparin. The sample should be stored at 4οC and should be received by […]. ...
Honey Bee Image Library, copyrighted by Zachary Huang, Site Notes. Please also visit beetography.com. Please cite source as Zachary Huang, cyberbee.net if the use is Both not-for-profit AND educational. Please contact me for permission for any other uses. ...
In couples where a miscarried embryo has an abnormal karyotype, 76% of subsequent miscarried embryos have shown abnormal ... Sugiura-Ogasawara, M.; Ozaki, Y.; Katano, K.; Suzumori, N.; Kitaori, T.; Mizutani, E. (2012). "Abnormal embryonic karyotype is ... Larger chromosomal disorders are generally detected on karyotype. ... this group of couples have a better long-term live birth rate than those where miscarried embryos have normal karyotype. While ...
... mosaics or otherwise abnormal individuals. Also, variation in karyotype may occur during development from the fertilized egg. ... The technique of determining the karyotype is usually called karyotyping. Cells can be locked part-way through division (in ... Abnormal numbers of chromosomes or chromosome sets, called aneuploidy, may be lethal or may give rise to genetic disorders. ... In general, the karyotype is the characteristic chromosome complement of a eukaryote species. The preparation and study of ...
Percutaneous umbilical cord blood sampling
Fetal developmental abnormalities along with the concern of an abnormal karyotype indicate PUBS; however, fetuses with a single ... Karyotypes are able to confirm or detect monosomies, trisomies, or missing portions of chromosomes to give a detailed picture ... For pregnancies in which genetic abnormalities may be present, PUBS can be used to construct a karyotype, usually within 48 ... alkaline denaturation test for detecting maternal blood contamination of fetal blood samples for prenatal karyotyping". Prenat ...
A karyotype is the set of chromosomes in an organism and the suffix -somy is used to name aneuploid karyotypes. This is not to ... Characteristic features of tetrasomy 18p include, but are not limited to: growth retardation, scoliosis, abnormal brain MRI, ... Karyotypes are commonly analyzed using Giemsa banding (G-banded karyotyping)). Each chromosome shows unique light and dark ... Spectral karyotyping (SKY) looks at the entire karyotype by using fluorescent labels and assigning a particular color to each ...
75% of abnormal karyotypes associated with choroid plexus cysts are trisomy 18, while the remainder are trisomy 21. There are ...
Cytogenetics involves using blood and other cells to produce a DNA karyotype. This can be helpful in cases of prenatal ... staffs composed of clinical scientists do the majority of this work inside the laboratory with certain abnormal results ... diagnosis (e.g. Down's syndrome) as well as in some cancers which can be identified by the presence of abnormal chromosomes. ...
Grade 1 or 2 tumors exhibit 46,XX normal karyotype, whereas grade 3 tumors show a variety of abnormal karyotypes. Though ... Prognosis and treatment options vary and largely depend on grade, stage and karyotype of the tumor itself. At CT and MRI, an ... Ihara T, Ohama K, Satoh H, Fujii T, Nomura K, Fujiwara A (December 1984). "Histologic grade and karyotype of immature teratoma ... immature teratoma cells show a normal karyotype, there may still be detectable alterations in the gene level and that these ...
... abnormal localization or immature granulocyte precursors in bone marrow section; completely or mostly abnormal karyotypes, or ... abnormal nuclear shape and size Chromosome abnormality, including chromosomal translocations and abnormal chromosome number ... Virtual karyotyping can be done for MDS, which uses computational tools to construct the karyogram from disrupted DNA. Virtual ... Clonal expansion of the abnormal cells results in the production of cells that have lost the ability to differentiate. If the ...
However, it is often unlikely that these samples will be tested when the blood karyotype is normal. Using an ultrasound, ... Pallister-Killian may be diagnosed through observation of hypertelorism, broad neck, shorts limbs, abnormal hands or feet, ... "The characteristic physiognomy and tissue specific karyotype distribution in the Pallister-Killian syndrome". Clin Genet. 28 (1 ...
... is most often associated with an abnormal chromosomal karyotype, gonadal dysgenesis, or the presence of a Y ... Women with Turner syndrome whose karyotype includes a Y chromosome (as in 45,X/46,XY mosaicism) are at increased risk for ... "Gonadoblastoma progressing to dysgerminoma in a 55-year-old woman with normal karyotype". Pathology. 39 (2): 284-5. doi:10.1080 ...
In the case of retinoblastoma, patients carry a visibly abnormal karyotype, with a loss of function mutation on a specific band ... The usual signs and symptoms for this disease are an abnormal abdominal mass, along with abdominal pain or obstructive jaundice ... practitioners may karyotype the patient before proceeding with treatment. Some examples of blastomas are ...
... can be defined as a species as it has its own clonal karyotype. ... with 22-25 clonally abnormal chromosomes, known as HeLa signature chromosomes." The signature chromosomes can ... Researchers have also noted how stable these aberrant karyotypes can be: ... "Comprehensive and definitive molecular cytogenetic characterization of HeLa cells by spectral karyotyping". Cancer Res. 59 (1 ...
... in high levels in the bone marrow of patients with a negative prognosis of acute myeloid leukemia and an abnormal karyotype. ...
... the presence of calico or tortoiseshell markings in male cats is an indicator of the relevant abnormal karyotype. As such, male ... This karyotype was found in a 24-year-old man who had signs of KS. Jacobs described her discovery of this first reported human ... KS is diagnosed by the genetic test known as a karyotype. While no cure is known, a number of treatments may help. Physical ... The first published report of a man with a 47,XXY karyotype was by Patricia Jacobs and John Strong at Western General Hospital ...
Minimally differentiated acute myeloblastic leukemia
Abnormal and unfavorable karyotypes (e.g., loss of the long arm of chromosome 5 (5q-) and 7q-) and higher expression of the ...
A dicentric chromosome is an abnormal chromosome with two centromeres. It is formed through the fusion of two chromosome ... In a normal human karyotype, five chromosomes are considered metacentric: chromosomes 1, 3, 16, 19, and 20. In some cases, a ... For example, the standard house mouse karyotype has only telocentric chromosomes. Humans do not possess telocentric chromosomes ... and Karyotype Evolution". The American Journal of Human Genetics. 82 (2): 261-82. doi:10.1016/j.ajhg.2007.11.009. PMC 2427194. ...
FSH and LH are secreted at abnormal elevated levels. Improper levels of these hormones will cause a failure to initiate puberty ... This results in the appropriate phenotype corresponding to the karyotype (46,XX for females and 46,XY for males). Gonadal ... The chromosomal loss results in partial expression of the SRY gene, giving rise to abnormal development of the reproductive ... 46,XY gonadal dysgenesis is characteristic of male hypogonadism with karyotype 46,XY. In embryogenesis, the development of the ...
People with the monosomy 45, X karyotype have an increased rate of hearing loss over other TS karyotype variants. Conductive ... The abnormal cells may have only one X (monosomy) (45,X) or they may be affected by one of several types of partial monosomy ... Considering other karyotype groups, though, they reported a prevalence of 24.3% and 11% in people with mosaic X monosomy, and a ... Meiotic errors that lead to the production of X with p arm deletions or abnormal Y chromosomes are also mostly found in the ...
Fluorescence in situ hybridization
FISH on sperm cells is indicated for men with an abnormal somatic or meiotic karyotype as well as those with oligozoospermia, ... Spectral karyotyping is an image of colored chromosomes. Spectral karyotyping involves FISH using multiple forms of many types ... Virtual karyotyping is another cost-effective, clinically available alternative to FISH panels using thousands to millions of ... This type of karyotyping is used specifically when seeking out chromosome arrangements. Eukaryotic chromosome fine structure G ...
Sertoli cell-only syndrome
... and it excludes abnormal karyotypes. All patients underwent MD-TESE in Iran. Ethnicity and genetic lineage may affect treatment ...
Karyotyping and chromosome studies were then used to study these errors further. This research provided a major advancement in ... This test used cells rubbed from the lining of the mouth to identify individuals with abnormal numbers of sex-chromosome bodies ...
... with an abnormal number of chromosomes. In the case of XYYY syndrome, the karyotype may be a result of non-disjunction with an ... As karyotyping at the time was in its infancy, confirming many early cases was difficult; one early recorded case of a supposed ... The 47,XYY karyotype is associated with an increased expression of H-Y antigen, and the azoospermia observed in 48,XYYY ... XYYY syndrome was first recorded in 1965, when the 48,XYYY karyotype was found in a five-year-old boy evaluated for borderline ...
... thickness Abnormal ductus venosus Abnormal fetal cardiac screening Major extracardiac abnormality Abnormal Fetal karyotype ...
... to a typical karyotype for the species via genetic testing. An abnormal number of chromosomes is called aneuploidy, and occurs ... Chromosome abnormalities may be detected or confirmed by comparing an individual's karyotype, or full set of chromosomes, ...
Embryonic stem cell
EC cells harbor genetic mutations and often abnormal karyotypes that accumulated during the development of the teratocarcinoma ... ESCs have a normal karyotype, maintain high telomerase activity, and exhibit remarkable long-term proliferative potential. ...
... and in mosaics or otherwise abnormal individuals. The typical human karyotypes contain 22 pairs of autosomal chromosomes and ... Karyotypes are arranged with the short arm of the chromosome on top, and the long arm on the bottom. Some karyotypes call the ... Media related to Karyotypes at Wikimedia Commons Making a karyotype, an online activity from the University of Utah's Genetic ... Karyotyping activity with case histories from the University of Arizona's Biology Project. Printable karyotype project from ...
Karyotype' as a term has multiple meanings, all of which are used here. It may refer to a person's chromosome complement, to ... Polani PE (16 August 1969). "Abnormal sex chromosomes and mental disorders". Nature. 223 (5207): 680-686. Bibcode:1969Natur.223 ... Pentasomy X, a karyotype of five X chromosomes, is another major differential diagnosis. The phenotype of pentasomy X is ... The formal term for the karyotype observed in tetrasomy X is 48,XXXX, as the condition is typified by a 48-chromosome ...
... be detected by virtual karyotypes because the presence of normal cells in the sample will dampen the signal from the abnormal ... Virtual karyotype is the digital information reflecting a karyotype, resulting from the analysis of short sequences of DNA from ... A karyotype (Fig 1) is the characteristic chromosome complement of a eukaryote species. A karyotype is typically presented as ... The status of the 1p/19q loci can be detected by FISH or virtual karyotyping. Virtual karyotyping has the advantage of ...
NPM1 - Wikipédia, a enciclopédia livre
2009). «NPM1 but not FLT3-ITD mutations predict early blast cell clearance and CR rate in patients with normal karyotype AML ( ... 1989). «Characterization of the cDNA encoding human nucleophosmin and studies of its role in normal and abnormal growth.». ...
Male reproductive system
An abnormal number of sex chromosomes (aneuploidy) may can occur. This includes Turner's syndrome - a single X chromosome is ... Human karyotype. Sexual identity is determined at fertilization when the genetic sex of the zygote has been initialized by a ...
... like karyotypes, cardiac echocardiograms, a renal sonogram, a platelet count, blood counts, a brain imaging study. Genetic ... which is a bleeding disorder and causes a lifelong risk of abnormal bleeding and bruising due to dysfunction in the platelets.[ ...
... abnormal maternal serum screen, abnormal ultrasound), and/or options for prenatal diagnosis (typically amniocentesis or ... Individuals who specialize in Cytogenetics typically work in the diagnostic laboratory, analyzing and interpreting karyotypes, ... Chromosome analysis using a karyotype involves special stains that generate light and dark bands, allowing identification of ... but in either case the test is used to detect the excretion of abnormal organic acids. These compounds are normally produced ...
Acute lymphoblastic leukemia
Some hypothesize that an abnormal immune response to a common infection may be a trigger. The underlying mechanism involves ... "Karyotype is an independent prognostic factor in adult acute lymphoblastic leukemia (ALL): analysis of cytogenetic data from ... The delayed-infection hypothesis states that ALL results from an abnormal immune response to infection in a person with genetic ...
... which results in the overproduction of abnormal megakaryocytes. The abnormal megakaryocytes stimulate other cells, the ... prognostic relevance is independent of IPSS or karyotype". American Journal of Hematology. 85 (1): 14-7. doi:10.1002/ajh.21574 ... When viewed through a microscope, a blood smear will appear markedly abnormal, with presentation of pancytopenia, which is a ... In these cases, myelofibrosis occurs as a result of somatic evolution of the abnormal hematopoietic stem cell clone that caused ...
Genetic causes of birth defects include inheritance of abnormal genes from the mother or the father, as well as new mutations ... other karyotypes/mosaics. *Klinefelter syndrome (47,XXY). *XXYY syndrome (48,XXYY). *XXXY syndrome (48,XXXY) ... Some conditions are due to abnormal tissue development: *A malformation is associated with a disorder of tissue development.[16 ... All three disorders cause abnormal brain function or mental retardation. Hepatosplenomegaly is the enlargement of the liver and ...
A routine chromosome analysis, or karyotype, is usually used to make the initial diagnosis, although it may also be made by ... including abnormal corpus callosum; short neck; small penis; accessory and wide-spaced nipples; broad or clubbed fingers; and ...
XY sex-determination system
Variations to the sex gene karyotype could include rare disorders such as XX males (often due to translocation of the SRY gene ... an abnormal number of sex chromosomes (aneuploidy) may be present, such as Turner's syndrome, in which a single X chromosome is ...
In general, idic(15) occurs de novo but the parents must be karyotyped to make sure it is not inherited, mostly because this ... In most cases, the abnormal chromosome is generated in the mother's germ cells: the oocytes. This finding is due to ... The extra chromosome in people with idic(15) can be easily detected through chromosome analysis (karyotyping). Additional tests ... sometimes called a marker chromosome or an extra structurally abnormal chromosome (ESAC). The marker usually exists as an ...
These effects appear to result directly from the over-proliferation of abnormal platelet precursor cells. ... The presence of these mutaions is restriced to cells bearing the trisomy 21 karyotype (i.e. extra chromosome 21) of Down ... Abnormal findings include the frequent presence of excessive blast cell numbers, reduced platelet and red blood cell levels, ... abnormal cells derived from single parent cells), pre-leukemic condition and is classified as a myelodysplastic syndrome ...
Confined placental mosaicism
The abnormal cells may fail to differentiate or function properly and could be lost. It is also possible that there is no ... February 2000). "Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: karyotype-phenotype ... Reduced or improved replication rates of the trisomic cells could affect the number of abnormal cells compared to the number of ... This includes an association between high levels of abnormal cells in placental tissue and concerns with the growth of the baby ...
... or they can occur during mitosis and give rise to a genetic mosaic individual who has some normal and some abnormal cells. ... Observations on karyotypesEdit. StainingEdit. The study of karyotypes is made possible by staining. Usually, a suitable dye, ... Digital karyotypingEdit. Digital karyotyping is a technique used to quantify the DNA copy number on a genomic scale. Short ... Karyotypes are arranged with the short arm of the chromosome on top, and the long arm on the bottom. Some karyotypes call the ...
Multinucleated and binucleated cells can also be abnormal in humans; for example, cells arising from the fusion of monocytes ... and during cell division the chromatin can be seen to form the well-defined chromosomes familiar from a karyotype. A small ... Other subnuclear structures appear as part of abnormal disease processes. For example, the presence of small intranuclear rods ...
If abnormal results are obtained, it does not necessarily mean the child has the disorder. Diagnostic tests must follow the ... or karyotypes for clinical purposes." It can provide information about a person's genes and chromosomes throughout life. ... In the past, the main genetic tests searched for abnormal chromosome numbers and mutations that lead to rare, inherited ...
Abnormal findings allow for early careful evaluation of chromosomes and possible structural defects on a targeted basis. How to ... "Increased nuchal translucency with normal karyotype". doi:10.1016/j.ajog.2004.12.093. Retrieved 2016-07-21. Souka AP, Von ... Blood testing is also used to look for abnormal levels of alphafetoprotein or hormones. The results of all three factors may ... Increased NT and normal karyotype". Centrus. Retrieved 2009-06-19. "Additional ultrasonographic markers in the first trimester ...
ISBN 0-03-091337-3. Another abnormal condition results when a normal X-bearing egg is fertilized by a YY sperm, formed by non- ... 183 cm] tall man of average intelligence who was karyotyped because he had a daughter with Down syndrome. Only a dozen isolated ... To our knowledge, there is no report of a discernibly increased risk for the XYY male to have chromosomally abnormal children. ... The first published report of a man with a 47,XYY karyotype was by internist and cytogeneticist Avery Sandberg and colleagues ...
Somatic evolution in cancer
In solid tumors, a majority of gene mutations are not recurrent types, and neither are the karyotypes. These ... This can cause a patch of abnormal tissue, or field defect. The figure in this section includes a photo of a freshly resected ... Recent studies from both direct DNA sequencing and karyotype analysis illustrate the importance of the high level of ... Sequences of karyotypes replacing one another in a tumor were observed as it progressed. Researchers hypothesized ...
Ploidy - Simple English Wikipedia, the free encyclopedia
Chapter XII: The Karyotype. Columbia University Press N.Y. *↑ Comai L (November 2005). "The advantages and disadvantages of ... Polyploidy may occur due to abnormal cell division. It is most commonly found in plants, but it does sometimes happen in ...
... "karyotype" refers to the full set of chromosomes from an individual; this can be compared to a "normal" karyotype for the ... This is called aneuploidy (an abnormal number of chromosomes), and occurs when an individual either is missing a chromosome ...
The abnormal plasma cells produce abnormal antibodies, which can cause kidney problems and overly thick blood. The plasma ... SNP array karyotyping can detect copy number alterations of prognostic significance that may be missed by a targeted FISH panel ... The paraprotein is an abnormal immunoglobulin produced by the tumor clone. In theory, multiple myeloma can produce all classes ... Multiple myeloma is diagnosed based on blood or urine tests finding abnormal antibodies, bone marrow biopsy finding cancerous ...
Marsh rice rat
... the abnormal molars are apparently the result of a single autosomal recessive mutation. At about 50%, hematocrit (the ... The karyotype includes 56 chromosomes and a fundamental number of 60 chromosomal arms (2n = 56, FN = 60). The form of the ... their karyotypes were also distinct. Since then, the two have generally been retained as distinct species, as supported by ...
It is characterized by short stature, epicanthal (eyelid) folds, abnormal fingerprints, and palm prints, heart defects, poor ... As of 2017[update], chromosomal microarray analysis (CMA) has replaced karyotyping, because of its greater diagnostic yield in ... By contrast, adoption at an early age mitigated some of the effects of earlier institutionalization (abnormal psychology). ... Traditionally, genetic abnormalities in neurodevelopmental disorders were detected using karyotype analysis, which found 5% of ...
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
The karyotype is that of an ordinary female: 46,XX. With this information, the diagnosis of CAH is readily made and female sex ... Scores of abnormal alleles of CYP21A2 have been documented, most arising from recombinations of homologous regions of CYP21A2 ... If female, fetal DNA is analyzed to see if she carries one of the known abnormal alleles of the CYP21 gene. If so, ... Surgical reconstruction of abnormal genitalia has been offered to parents of severely virilized girls with CAH since the first ...
As this karyotype displays, a diploid human cell contains 22 pairs of homologous chromosomes and 2 sex chromosomes.. Section ... The term "aneuploidy" refers to an abnormal numbers of nuclear chromosomes; extra-nuclear genomes are not counted. It's ...
Partial androgen insensitivity syndrome
Evidence of abnormal androgen binding in a genital skin fibroblast study has long been the gold standard for the diagnosis of ... XY karyotype is great enough to partially prevent the masculinization of the genitalia, but is not great enough to completely ... even though they were more likely to have genitalia that were abnormal in size and appearance; more than half of the male ...
Karyotyping: MedlinePlus Medical Encyclopedia
Karyotyping is a test to examine chromosomes in a sample of cells. This test can help identify genetic problems as the cause of ... Karyotype tests should be repeated to confirm that an abnormal chromosome problem is actually in the body of the person. ... Karyotyping is a test to examine chromosomes in a sample of cells. This test can help identify genetic problems as the cause of ... Your provider may order other tests that go together with a karyotype:. *Microarray: Looks at small changes in the chromosomes ...
Abnormal Karyotype in Single Reported Female Patient Causes & Reasons - Symptoma
Abnormal Karyotype in Single Reported Female Patient Symptom Checker: Possible causes include Syndesmodysplasic Dwarfism. Check ... heterozygotes Abnormal EMG evidence of denervation Abnormal extraocular movements Abnormal eye movements conjugate Abnormal ... Abnormal joints acromioclavicular Abnormal karyotype in 3 patients involving distal 6p in single reported female patient 46, XX ... Abnormal Karyotype in Single Reported Female Patient Symptom Checker: Possible causes include Syndesmodysplasic Dwarfism. Check ...
Abnormal Karyotype Archives - KaryotypingHub
Abnormal Karyotype; Karyotype, Abnormal
Karyotype, Abnormal. On-line free medical diagnosis assistant. Ranked list of possible diseases from either several symptoms or ... Abnormal karyotype (Karyotype, Abnormal). A variation from the normal set of chromosomes characteristic of a species. ... Ranked list of diseases related to "abnormal karyotype"Drugs, active principles and "abnormal karyotype"Medicinal plants ...
Recapitulating cortical development with organoid culture in vitro and modeling abnormal spindle-like (ASPM related primary)...
Karyotyping and RT-PCR. Karyotypes were determined with standard G-banding chromosome analysis in the Oakland Children Hospital ... In hiPSC-ASPM aggregates, although abnormal lamination of neurons was not observed, many Satb2+ or Ctip2+ neurons were ... All three hiPSC-ASPM cell clones, including hiPSC-ASPM-1, hiPSC-ASPM-2 and hiPSC-ASPM-3, presented normal human karyotypes (Fig ... Pulvers JN et al (2010) Mutations in mouse Aspm (abnormal spindle-like microcephaly associated) cause not only microcephaly but ...
Klinefelter's Syndrome - Causes, Symptoms, Diagnosis, Treatment & Complications
Chromosome/ Karyotype analysis. It is also called Karyotype analysis. It checks for the XXY condition by looking at the number ... They check for abnormal hormone levels that are associated with the XXY syndrome. It is done by using a blood sample.The ... Diagnosis of Klinefelter s is confirmed by either of the two tests- a Buccal Smear or a Karyotype analysis.. Hormone testing. ... examination of an individual with Klinefelter s Syndrome is performed and confirmed by diagnostic tests such as a Karyotype or ...
Karyotype Test | Cigna
Extra or missing chromosomes, or abnormal positions of chromosome pieces, can cause problems with a persons growth, ... Karyotype is a test to identify and evaluate the size, shape, and number of chromosomes in a sample of body cells. ... Karyotype testing can be done using almost any cell or tissue from the body. A karyotype test usually is done on a blood sample ... Karyotype. Normal:. *There are 46 chromosomes that can be grouped as 22 matching pairs and 1 pair of sex chromosomes (XX for a ...
Distinct clinical outcomes for cytogenetic abnormalities evolving from aplastic anemia | Blood Journal
In historical studies of abnormal karyotypes in AA, patients with abnormal cytogenetics and hypoplastic marrows at presentation ... In all but 2 patients who initially presented with a mosaic of normal and abnormal karyotype, there was a steady increase in ... Abnormal karyotypes-clinical comparisons. Among patients who developed karyotypic abnormalities, trisomy 8 (n = 7; 23% of total ... The acquisition of an abnormal karyotype in the setting of diagnosed AA is not infrequent, but estimates have been variable ...
Rapid Karyotyping in Fetuses with Abnormal Sonogram<...
title = "Rapid Karyotyping in Fetuses with Abnormal Sonogram",. abstract = "Prenatal karyotyping of fetuses having an abnormal ... Rapid Karyotyping in Fetuses with Abnormal Sonogram. Fon‐Jou ‐J Hsieh, Han‐Chuan ‐C Hsu, Tsang‐Ming ‐M Ko, Fong‐Ming ‐M Chang, ... Rapid Karyotyping in Fetuses with Abnormal Sonogram. / Hsieh, Fon‐Jou ‐J; Hsu, Han‐Chuan ‐C; Ko, Tsang‐Ming ‐M; Chang, Fong‐ ... Rapid Karyotyping in Fetuses with Abnormal Sonogram. Acta Obstetricia et Gynecologica Scandinavica. 1988 Jan;67(7):621-625. ...
Karyotype Test - Adventist HealthCare
If the results of karyotype are abnormal, other family members may be advised to have the test. ... Karyotype Test. Test Overview. Karyotype is a test to identify and evaluate the size, shape, and number of chromosomes in a ... Karyotype testing can be done using almost any cell or tissue from the body. A karyotype test usually is done on a blood sample ... Karyotype. Normal:. *There are 46 chromosomes that can be grouped as 22 matching pairs and 1 pair of sex chromosomes (XX for a ...
Amenorrhea: A Systematic Approach to Diagnosis and Management
A karyotype is abnormal in approximately one-third of patients with primary amenorrhea, and it should be offered to all ... Sexual maturity rating abnormal. Turner syndrome, constitutional delay of puberty, rare causes. ... Abnormal: chronic disease (e.g., elevated liver enzymes in functional hypothalamic amenorrhea). ... It is characterized by the abnormal development of reproductive anatomy and is associated with urologic and skeletal ...
Peculiarities of abnormal karyotypes formation in therapy-related acute leukemias | Experimental oncology
To determine ways of formation of abnormal karyotypes in two clinical cases of secondary acute leukemias of myeloid and ... Peculiarities of abnormal karyotypes formation in therapy-related acute leukemias. Andreieva S.V.*1, Kyselova O.A.1, Serbin I.M ... The aim of the study was to analyze the features of the formation of an abnormal karyotype in bone marrow cells in two clinical ... Aim: To determine ways of formation of abnormal karyotypes in two clinical cases of secondary acute leukemias of myeloid and ...
Draft ICD-10-CM/PCS MS-DRGv28 Definitions Manual
Karyotype 47, XYY. Q986. Male with structurally abnormal sex chromosome. Q987. Male with sex chromosome mosaicism. ... Abnormal level of enzymes in specimens from male genital organs. R861. Abnormal level of hormones in specimens from male ... Abnormal histological findings in specimens from male genital organs. R868. Other abnormal findings in specimens from male ... Abnormal microbiological findings in specimens from male genital organs. R866. Abnormal cytological findings in specimens from ...
2021 ICD-10-CM Diagnosis Code Q96.2: Karyotype 46, X with abnormal sex chromosome, except iso (Xq)
Karyotype 46, x with abnormal sex chromosome except iso (xq). *Turner syndrome 46, x with abnormal sex chromosome, not iso (xq) ... Karyotype 46, X with abnormal sex chromosome, except iso (Xq). 2016 2017 2018 2019 2020 2021 Billable/Specific Code POA Exempt ... Short description: Karyotype 46, X w abnormal sex chromosome, except iso (Xq) ... Q95.2 Balanced autosomal rearrangement in abnormal individual Q95.3 Balanced sex/autosomal rearrangement in abnormal individual ...
Articles by Fredric D. Frigoletto, Jr, MD : Obstetrics & Gynecology
Karyotype - Wikipedia
... or they can occur during mitosis and give rise to a genetic mosaic individual who has some normal and some abnormal cells. ... Observations on karyotypesEdit. StainingEdit. The study of karyotypes is made possible by staining. Usually, a suitable dye, ... Digital karyotypingEdit. Digital karyotyping is a technique used to quantify the DNA copy number on a genomic scale. Short ... Karyotypes are arranged with the short arm of the chromosome on top, and the long arm on the bottom. Some karyotypes call the ...
Karyotype Variability within the Cattle Monobaramin | Answers in Genesis
Two cases that appear in the literature are from abnormal animals. The first was a 1;16 tandem fusion found in a bull with ... Table 2. Comparison of the normal karyotype of animals in the tribe Bovini (cattle, bison, and buffalo) to the cattle karyotype ... This karyotype is used as a basis of comparison for other bovid karyotypes. ... Karyotype Variability within the Cattle Monobaramin. by Dr. Jean Lightner on June 11, 2008 PDF Download ...
Monosomal karyotype in adult acute myeloid leukemia: prognostic impact and outcome after different treatment strategies. -...
Of 1058 patients with abnormal cytogenetics, 319 (30%) were MK MK(+). MK(+) patients were significantly older (P = .0001), had ... Monosomal karyotype in adult acute myeloid leukemia: prognostic impact and outcome after different treatment strategies.. ... We aimed to determine the prognostic impact of monosomal karyotype (MK) in acute myeloid leukemia (AML) in the context of the ... complex karyotype (CK), and myelodysplasia (MDS)-related cytogenetic abnormalities (P , .0001, each); and NPM1 mutations (P , . ...
Insulin Resistance in Idiopathic Oligospermia and Azoospermia - Full Text View - ClinicalTrials.gov
X-chromosome Inactivation, Epigenetics and the Transcriptome - Full Text View - ClinicalTrials.gov
Denosumab and Male Infertility: a RCT - Full Text View - ClinicalTrials.gov
Opitz Trigonocephaly Syndrome - Everything2.com
APPLICATION OF MLPA (MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION) IN FETUSES WITH AN ABNORMAL SONOGRAM AND NORMAL...
MECP2 mutations in males | Journal of Medical Genetics
MALES WITH ABNORMAL KARYOTYPES. In a very small number of cases, a classical RS phenotype was described in male patients. The ... Another male patient had a female 46,XX karyotype, but he was found to carry a copy of the SRY sex-determining gene attached to ... Schwartzman JS, Bernardino A, Nishimura A, Gomes RR, Zatz M. Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare ... 69 His blood and skin cells had a normal karyotype. He was also affected by a classical form of RS. The same R270X mosaic ...
Genetic: Patau Syndrome | Encyclopedia.com
Karyotype: A photomicrograph of the chromosomes in a single human cell. Making a karyotype is one way to test for genetic ... Abnormal genitalia.. *Rocker-bottom feet. This term is used to describe abnormally long and slender feet with pointed heels ... This analysis, or karyotype, is needed to distinguish Patau syndrome from other genetic disorders that can cause heart defects ... The reason for the extra copy in the abnormal germ cell is a genetic error called nondisjunction. During the normal process of ...
Using Karyotypes to Predict Genetic Disorders
There are animations on how normal meiosis, fertilization and abnormal meiosis work. There are also animations on how trisomy ... Using Karyotypes to Predict Genetic Disorders This site provides an array of animations pertaining to genetic disorders. ... If you know the author of Using Karyotypes to Predict Genetic Disorders, please help us out by filling out the form below and ... You just viewed Using Karyotypes to Predict Genetic.... Please take a moment to rate this material. ...
Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal...
... elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype.. ... WISECONDOR plots showing the abnormal NIPT results in cases 1, 2, and 3. (A) Case 1 with a duplication of part of 4q-dup(4) ( ... elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype ... elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype ...
BT-549 ATCC ® HTB-122™ Homo sapiens mammary gland; breast d
Inflammatory Cytokines in Maternal Circulation and Placenta of Chromosomally Abnormal First Trimester Miscarriages
... lower in miscarriages with abnormal karyotype. In the abnormal karyotype group, there were significantly higher levels of TNF, ... In miscarriage with abnormal karyotype, there is an exacerbated placental inflammatory response, in contrast to miscarriage of ... Tissue chromosome analysis indicated 23 abnormal and 15 normal karyotypes. Concentration of tumour necrosis factor alpha (TNF, ... in the villous extracts and culture-conditioned medium compared to normal karyotype group. ...
Karyotyping - SmartEngage
Karyotype tests should be repeated to confirm that an abnormal chromosome problem is actually in the body of the person. ... What Abnormal Results Mean Abnormal results may be due to a genetic syndrome or condition, such as:. *Down syndrome Down ... Karyotyping. Chromosome analysis. Karyotyping is a test to examine chromosomes in a sample of cells. This test can help ... Karyotyping - illustration Karyotyping is a test used to identify chromosome abnormalities as the cause of malformation or ...
ChromosomesAbnormalitiesCytogeneticsStructurally abnormalMale karyotypeCytogenetic AnalysisFetusesNormalTrisomyMicroarrayMosaicismGenesAbnormalityMiscarriagesComplex karyotypeSpectral KaryotypingCellsPlacentalTurner'sPhenotypeKlinefelterPredict Genetic DisordersDiagnosisAneuploidTissueGeneticsSyndromeClinicalAcuteResultsPregnancyNondisjunctionUltrasoundEmbryoMaternalTestAnalysisBone marrow specimenDiagnosticTumorCellFindingsMeSHUterus
- Karyotyping is a test to examine chromosomes in a sample of cells. (medlineplus.gov)
- Karyotype is a test to identify and evaluate the size, shape, and number of chromosomes in a sample of body cells. (cigna.com)
- Extra or missing chromosomes, or abnormal positions of chromosome pieces, can cause problems with a person's growth, development, and body functions. (cigna.com)
- The shape or size of one or more chromosomes is abnormal. (adventisthealthcare.com)
- t-AML following the treatment with alkylating agents usually develops in 5-7 years after the treatment, is preceded by t-myelodysplastic syndrome and often associated with unbalanced loss of genetic material, most often, deletion of chromosomes 5 or 7 or complex karyotype . (exp-oncology.com.ua)
- A karyotype is the number and appearance of chromosomes in the nucleus of a eukaryotic cell . (wikipedia.org)
- Karyotypes describe the chromosome count of an organism and what these chromosomes look like under a light microscope . (wikipedia.org)
- The next stage took place after the development of genetics in the early 20th century, when it was appreciated that chromosomes (that can be observed by karyotype) were the carrier of genes. (wikipedia.org)
- Lev Delaunay [ ru ] in 1922 seems to have been the first person to define the karyotype as the phenotypic appearance of the somatic chromosomes, in contrast to their genic contents. (wikipedia.org)
- Investigation into the human karyotype took many years to settle the most basic question: how many chromosomes does a normal diploid human cell contain? (wikipedia.org)
- The karyotype of humans includes only 46 chromosomes. (wikipedia.org)
- The X chromosomes are all abnormal. (atcc.org)
- Some genetic disorders are caused by an abnormal number of chromosomes. (medindia.net)
- The advantage of chromosomal microarray analysis is its high resolution and sensitivity, which allows detection of events at the level of genes, as opposed to the level of chromosomes for karyotyping. (medindia.net)
- The proband must have a non-mosaic abnormal G-banded chromosome analysis of good quality that shows one or more derivative chromosomes whose foreign component cannot be determined by standard G-banding techniques. (clinicaltrials.gov)
- A karyotype a complete set of chromosomes of a particular species. (wikibooks.org)
- The latter is what determines whether a developing embryo develops as a physiological male or female, with a male karyotype displaying the diminutive Y chromosome beside its larger X chromosome partner (women have two X chromosomes in their karyotype). (wikibooks.org)
- A karyotype is generally an image of a completed and arranged set of chromosomes as viewed through a light microscope. (wikibooks.org)
- When this gamete joins with its respective counterpart during fertilization, the number of chromosomes will be abnormal. (wikibooks.org)
- Genetic tests Genetic tests are used to check for abnormal chromosomes and genes. (nccn.org)
- This type of test is used to look for abnormal changes in the chromosomes of the myeloma cells. (nccn.org)
- It will show if there are any abnormal changes in the size, shape, structure, or number of chromosomes. (nccn.org)
- The sex chromosomes are labeled X and Y. Karyotyping is useful in determining the presence of chromosome defects. (thefreedictionary.com)
- They assess for abnormal changes in genes and chromosomes. (nccn.org)
- The pathologist will also look for other abnormal chromosomes. (nccn.org)
- Treatment is working well if tests show the abnormal chromosomes are no longer present. (nccn.org)
- Abnormal chromosomes reappear when treatment stops working. (nccn.org)
- Karyotype A karyotype is a picture of the chromosomes in cells. (nccn.org)
- It shows abnormal changes in chromosomes. (nccn.org)
- A karyotype test looks at the size, shape, and number of your chromosomes. (medlineplus.gov)
- A normal chromosome N1 (or two) is identified in each karyotype, but, in addition, regions of chromosome N1 are also present in five different marker chromosomes. (atcc.org)
- Some or all of the missing 7 may be present in other abnormal ('marker') chromosomes. (protocol-online.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)
- The stained cells are photographed and the image is analyzed to look for abnormal numbers or structures of chromosomes, such as deletions and translocations. (healthcentral.com)
- CMA results were judged to be abnormal in 7.3 percent of patients when the entire length of the chromosomes (the whole genome) was sampled. (innovations-report.com)
- The results of detailed molecular‑cytogenetic studies of isodicentric (idic)Y chromosomes and isochromosome (iso)Y, which are identified in patient with complex mosaic karyotypes, are presented. (spandidos-publications.com)
- Most miscarriages are caused by an abnormal number of chromosomes in the embryo. (medicalxpress.com)
- Traditional Karyotyping is the study of chromosomes in a miscarriage sample. (medicalxpress.com)
- The number of chromosomes in karyotyping helps scientists quickly identify alterations that may result in a genetic disorder, which often leads to miscarriage. (medicalxpress.com)
- Karyotyping is a test used to identify chromosome abnormalities as the cause of malformation or disease. (adam.com)
- Most chromosomal abnormalities are associated with primary abnormal trophoblast invasion of the uterine decidua [ 5 - 7 ]. (hindawi.com)
- However, like karyotyping, it may also detect abnormalities that do not have any clinical significance, which would warrant counseling of the patient to remove any unwanted anxiety. (medindia.net)
- Children and adults with various chromosome abnormalities may be eligible for this study, including, for example, people with developmental delay or mental retardation, abnormal growth features or growth retardation, and certain behavioral disorders. (clinicaltrials.gov)
- CONCLUSIONS: In patients with AML, TSG methylation is more frequent in patients with normal karyotype than those with karyotypic abnormalities but does not confer independent prognostic information for patients with normal cytogenetics. (biomedsearch.com)
- For prenatal diagnostic samples: Fetal abnormalities detected by ultrasound, abnormal maternal serum screening test result, advanced maternal age, family history of chromosome abnormality, abnormal aCGH result requiring chromosome analysis for clarification, recurrent spontaneous abortions. (genedx.com)
- Other genetic abnormalities that portend poor prognosis are seen on karyotyping. (cap.org)
- The currently recommended tests (karyotyping to look for chromosomal abnormalities and testing for Fragile X, the single largest known genetic cause of ASDs) often come up negative. (innovations-report.com)
- All patients displayed immunophenotypic and intracellular signaling abnormalities within CD34 + CD38 lo populations, and several karyotype- and genotype-specific surface marker patterns were identified. (aacrjournals.org)
- Karyotyping failed to reveal abnormalities. (omicsonline.org)
- 8 Similarly, in a recent series of 13 patients with AA and abnormal cytogenetics, only 2 developed the abnormality later in the course of the disease. (bloodjournal.org)
-  The preparation and study of karyotypes is part of cytogenetics . (wikipedia.org)
- For sake of comparison, samples from patients with AML and abnormal cytogenetics (n = 63) were also evaluated. (biomedsearch.com)
- Current methods for the analysis of cellular genetic content include comparative genomic hybridization (CGH) ( 3 ), representational difference analysis ( 4 ), spectral karyotyping/multiplex-fluorescence in situ hybridization (M-FISH) ( 5 , 6 ), microarrays ( 7-10 ), and traditional cytogenetics. (pnas.org)
- Hi, if you want to know the karyotype of the HT-1080 grown in your lab, you'll need to have a metaphase prep made and have a cytogenetics lab look at it for you. (protocol-online.org)
- The variation of clinical phenotypes depends on the structure of the abnormal Y chromosome, the breakpoints, and the types of mosaics, which consist of a 45,X associated with another cell line that contains a structurally abnormal Y chromosome ( 5 ). (spandidos-publications.com)
- The presence of a structurally abnormal third X chromosome has not demonstrably affected this patient or her reproduction. (bmj.com)
- Only a few cases have been reported of patients who have a 47,XXX karyotype with the third X chromosome being structurally abnormal. (bmj.com)
- Cytogenetic analysis shows abnormal male karyotype. (mds-foundation.org)
- Prenatal karyotyping of fetuses having an abnormal sonogram was undertaken in 27 pregnancies between 17 and 39 weeks, using fetal blood obtained by percutaneous umbilical cord blood sampling under ultrasound guidance. (ncku.edu.tw)
- Nineteen fetuses had a normal karyotype (46, XX: 9 cases, 46, XY: 10 cases). (ncku.edu.tw)
- We concluded that in fetuses with an abnormal sonogram, rapid karyotyping using fetal blood obtained under ultrasound guidance had important implications in obstetric and neonatal management and would facilitate genetic counselling. (ncku.edu.tw)
- Copy number variations in ultrasonically abnormal late pregnancy fetuses with normal karyotypes. (harvard.edu)
- Prevalence of Turner's syndrome karyotypes among prenatally tested fetuses and Turner's syndrome among liveborn infants. (bmj.com)
- Among female fetuses tested by amniocentesis, prevalence of Turner's syndrome karyotypes was 176/100000 (relative risk of syndrome, 6.74 compared with prevalence among untested pregnancies). (bmj.com)
- Among female fetuses tested by chorion villus sampling, prevalence of syndrome karyotypes was 392/100000 (relative risk, 16.8). (bmj.com)
- Abnormal karyotype of fetuses with omphalocele: prediction based on omphalocele contents. (springer.com)
- Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype. (semanticscholar.org)
- Chemotherapy may cause chromosome breaks that affect normal karyotyping results. (medlineplus.gov)
- Conversion from normal to abnormal karyotype occurred at a constant rate after initial diagnosis, with about 50% of cases developing within the first 30 months. (bloodjournal.org)
- There are animations on how normal meiosis, fertilization and abnormal meiosis work. (merlot.org)
- Tissue chromosome analysis indicated 23 abnormal and 15 normal karyotypes. (hindawi.com)
- In miscarriage with abnormal karyotype, there is an exacerbated placental inflammatory response, in contrast to miscarriage of normal karyotype where maternal systemic response is increased. (hindawi.com)
- His karyotype was 45,X/46,X+mar mosaicism (26 lymphocytes had 46,X+mar karyotype and the karyotype of the other 14 lymphocytes was 45,X). The non-consanguineous parents were clinically normal and the karyotype of the father was 46,XY. (bmj.com)
- We present a case of fetoplacental discrepancy in a second-trimester fetus with normal karyotype in amniotic fluid and two different Robertsonian translocations in placenta. (hindawi.com)
- Amniotic fluid karyotype showed a normal 46,XX karyotype with a homozygous inv(9). (hindawi.com)
- Our case appears to be another example of confined placental mosaicism (CPM) with normal fetal karyotype. (hindawi.com)
- This test can tell the difference between normal plasma cells and abnormal plasma cells (myeloma cells). (nccn.org)
- Epigenetic differences in cytogenetically normal versus abnormal acute myeloid leukemia. (biomedsearch.com)
- Variation is evident in the normal and marker chromosome copy number from karyotype to karyotype. (atcc.org)
- Digital karyotyping was performed on DNA from colorectal cancer cell lines DiFi and Hx48, and from the lymphoblastoid cells of a normal individual (GM12911, obtained from Coriell Cell Repositories, Camden, NJ). (pnas.org)
- Keep in mind also that a karyotype including '-7' doesn't mean there is only one copy of 7, it means there is only one NORMAL 7 present. (protocol-online.org)
- On the other hand, this group of couples have a better long-term live birth rate than those where miscarried embryos have normal karyotype. (wikipedia.org)
- Two cells show a normal karyotype. (mds-foundation.org)
- Thirteen of these children were karyotyped postnatally, and diagnosis of Turner's syndrome had to be revised for eight, seven being normal girls and one boy. (bmj.com)
- Omphalocele: clinical outcomes in cases with normal karyotypes. (springer.com)
- CMA test results will be reported as normal, abnormal or unavailable (insufficient DNA obtained from samples). (sgh.com.sg)
- 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)
- Patients with iso(Y) or idic(Y) may develop mosaic karyotypes with variable phenotypes, such as spermatogenic failure, sexual infantilism, hypospadias, ambiguous genitalia, and a normal male phenotype ( 4 ). (spandidos-publications.com)
- A phenotypically normal woman with a 47,XX,i(Xq) karyotype is reported. (bmj.com)
- A recent study published in the New England Journal of Medicine evaluated the accuracy and efficacy of chromosomal microarray as compared to karyotyping in prenatal diagnosis. (medindia.net)
- In both karyotyping and microarray analysis, fetal cells were obtained via an invasive procedure such as amniocentesis (fetal cells taken from the amniotic fluid), or chorionic villus sampling (fetal cells taken from the placenta). (medindia.net)
- The study revealed that karyotyping and chromosomal microarray analysis are equally effective in identifying aneuploidies. (medindia.net)
- Chromosome microarray is designated as a first-line test and replaces the standard karyotype and fluorescent in situ hybridization subtelomere tests for the child with intellectual disability of unknown etiology. (aappublications.org)
- The genomic integrity of iPSCs after reprogramming must then be confirmed using chromosomal microarray and karyotype. (rochester.edu)
- Although this karyotype is relatively common in Turner's syndrome and occasionally observed in mixed gonadal dysgenesis, DMPH is usually exemplified by a 46,XY karyotype except for one patient reported with 45,X/46,XY mosaicism. (bmj.com)
- 4 6 Although patients with DMPH reported on to date had a 46,XY karyotype, 1 2 except for one with 45,X/46,XY mosaicism, 6 and Turner stigmata have not previously been reported in classical DMPH, we here report a case of DMPH with Turner stigmata and 45,X/46,X+mar karyotype, which is a relatively common karyotype in patients with Turner's syndrome. (bmj.com)
- Abnormal placentation in pregnancy could be due to several factors including confined placental mosaicism (CPM) and increased maternal tendency to venous thrombosis. (hindawi.com)
- This child has two abnormal genes. (rettsyndrome.org)
- 6 In another report of 69 Italian AA patients, an abnormal karyotype was found in 18, but the findings were transient in 8 patients and in only 7 cases was the karyotypic abnormality known not to be present initially. (bloodjournal.org)
- Karyotype showing derivative chromosome abnormality that is not fully characterized. (clinicaltrials.gov)
- The present patient is an intermediate case between mixed gonodal dysgenesis and typical DMPH, and this indicates that 45,X/46,X+mar karyotype abnormality can result in a wide range of phenotype such as DMPH, mixed gonodal dysgenesis and Turner's syndrome. (bmj.com)
- Karyotyping of the cell lines by multicolour chromosome painting-spectral karyotyping (SKY)-distinguished several patterns of chromosome abnormality and genomic instability, some of them not previously described in epithelial tumors. (pnas.org)
- hydatid mole , hydatidiform mole an abnormal pregnancy characterized by placental abnormality involving swollen chorionic villi, which form a large, grapelike mass of vesicles, by trophoblastic hyperplasia, and by loss of fetal blood vessels in the villi. (thefreedictionary.com)
- The current study highlights that routine karyotype analysis and fluorescent in situ hybridization‑based technology are more useful in detecting mosaic chromosomal abnormality, predicting the clinical features of patients during genetic counseling and improving artificial reproductive technologies. (spandidos-publications.com)
- The complex karyotype formed after chemotherapy and radiotherapy, which is a criterion for an unfavorable prognosis of the disease, is considered as the equivalent of chromothripsis. (exp-oncology.com.ua)
- We propose to use Spectral Karyotyping (SKY) and supplementary FISH and molecular techniques to characterize these aberrations. (clinicaltrials.gov)
- Spectral karyotyping (SKY) showed that translocations were very varied and mostly unbalanced, with no translocation occurring in more than three lines. (pnas.org)
- Karyotype disparities between cytotrophoblast and fetal cells occur in 1-2% of cases [ 3 ]. (hindawi.com)
- Fetal growth retardation and death were shown to be associated with an increasing proportion of aneuploidic cells in the placenta and placental lineage, even when the chromosomal anomaly is exclusively confined to the placenta, suggesting a major influence for the placenta on abnormal fetal development [ 9 - 11 ]. (hindawi.com)
- Indeed, some people insist on doing karyotypes of their unborn babies early in their pregnancies to test for such disorders, the usual method of obtaining cells in amniocentesis. (wikibooks.org)
- Light chain amyloidosis Amyloid is a rare protein found in people with abnormal plasma cells that make abnormally folded light chains. (nccn.org)
- For a karyotype test, your provider will need to take a sample of your cells. (medlineplus.gov)
- Activation of autophagy in cells with abnormal karyotype. (mpg.de)
- Cells show abnormal karyotype. (coriell.org)
- Acute myeloid leukemia (AML) includes molecularly and biologically distinct subtypes of disease in which clonal populations of abnormal stem and progenitor cells give rise to a large population of proliferative myeloid blasts and other immature cell types ( 1 ). (aacrjournals.org)
- It is also now well established that early stem and progenitor cell subsets [leukemia stem cells (LSC)] within the abnormal myeloid cell compartment contain the leukemia-initiating activity of AML and likely mediate clinical relapse following therapy ( 4-6 ). (aacrjournals.org)
- Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype. (cdc.gov)
- Placental studies revealed the aberration detected with NIPT in the cytotrophoblast, whereas the fetal karyotype was confirmed in the placental mesenchymal core. (cdc.gov)
- The impact of abnormal placental karyotype on the inflammatory response within the villous tissue and peripheral circulation of women with miscarriage was evaluated. (hindawi.com)
- However, most previous studies have used placental tissue for early pregnancy failure without knowledge of the karyotype or have focused on women presenting with recurrent miscarriage, and thus little is known about the impact of the conceptus karyotype on the placental and systemic inflammatory responses in early pregnancy failure. (hindawi.com)
- Abnormal placentation early in pregnancy results in restricted blood flow to the placental-fetal unit. (hindawi.com)
- 2 3 5 Furthermore, it is thought that a close relationship also exists between MGD and Turner's syndrome because a 45X/46XY karyotype, which is typical of MGD, 4 6 is seen in Turner's syndrome, 6 7 and features of Turner's syndrome are seen in patients with MGD. (bmj.com)
- All registered Turner's syndrome karyotypes (100 prenatal cases and 215 postnatal cases) during 1970-93. (bmj.com)
- Possible mechanisms of the formation of the mosaic karyotype and karyotype‑phenotype correlations are discussed. (spandidos-publications.com)
- Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. (drugs.com)
Predict Genetic Disorders1
- If you know the author of Using Karyotypes to Predict Genetic Disorders , please help us out by filling out the form below and clicking Send. (merlot.org)
- [ 10 ] A karyotype is abnormal in approximately one-third of patients with primary amenorrhea, and it should be offered to all patients with a diagnosis of primary ovarian insufficiency to identify Turner syndrome (or variants). (medscape.com)
- Women found to be at high-risk would be candidates for amniocentesis or chorionic villus sampling (CVS), with karyotyping of the tissue obtained to confirm the diagnosis. (aetna.com)
- Karyotype analysis proved the diagnosis. (pediatriconcall.com)
- ACOG and SMFM guidelines for prenatal diagnosis: Is karyotyping really sufficient? (semanticscholar.org)
- Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis. (semanticscholar.org)
- It has been known for a long time that many carcinomas have highly aneuploid karyotypes ( 1 ), suggesting that one of the steps selected for during tumor evolution results in genomic instability ( 2 , 3 ). (pnas.org)
- The cell line is aneuploid human, presumably female (X, abnormal X) with most chromosome counts in the hypotriploid range. (atcc.org)
- Since the information obtained from karyotyping can have a profound impact on your life, you may want to see a doctor who specializes in genetics (geneticist) or a genetic counselor . (cigna.com)
- The study of karyotypes is important for cell biology and genetics , and the results may be used in evolutionary biology ( karyosystematics )  and medicine . (wikipedia.org)
- This type of counselor is trained to help you understand what karyotype test results mean for you, such as your risk for having a child with an inherited (genetic) condition like Down syndrome . (cigna.com)
- The women were selected based on advanced maternal age, abnormal result on Down's syndrome screening, structural anomalies on ultrasonography, and other indications. (medindia.net)
- Down's syndrome is easily identified via a karyotype by the obvious extra chromosome present in the image. (wikibooks.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)
- Besides Down syndrome karyotype, there are other genetic conditions that result from abnormal karyotypes. (newhealthadvisor.org)
- Monosomal karyotype in adult acute myeloid leukemia: prognostic impact and outcome after different treatment strategies. (nih.gov)
- We aimed to determine the prognostic impact of monosomal karyotype (MK) in acute myeloid leukemia (AML) in the context of the current World Health Organization (WHO) classification and to evaluate the outcome of MK(+) patients after allogeneic HSCT. (nih.gov)
- Karyotyping is also useful in following the progression of CML to acute myeloid leukemia. (cap.org)
- One patient with acute promyelocytic leukemia (APL) has been reported to carry the 45,-Y,t (X;17)(p11;q12) karyotype, leading to the formation of a BCOR-RAR alpha fusion gene. (haematologica.org)
- Results of a karyotype test are usually available within 1 to 2 weeks. (cigna.com)
- If you are being treated for cancer, the results of a karyotype test may not be accurate. (adventisthealthcare.com)
- If the results of karyotype are abnormal, other family members may be advised to have the test. (adventisthealthcare.com)
- WISECONDOR plots showing the abnormal NIPT results in cases 1, 2, and 3. (cdc.gov)
- I've just received the Karyotyping results on the baby from my last miscarriage and was wondering if anyone has had similar. (mumsnet.com)
- Abnormal CMA results are reported in accordance to the International System for Human Cytogenomic Nomenclature (ISCN, 2016). (sgh.com.sg)
- Pregnancy in a patient with 47,XX,i(Xq) karyotype. (bmj.com)
- The reason for the extra copy in the abnormal germ cell is a genetic error called nondisjunction. (encyclopedia.com)
- Autopsy was performed in 132 cases identified by ultrasound scan, with no evidence for abnormal karyotype. (bmj.com)
- In couples where a miscarried embryo has an abnormal karyotype, 76% of subsequent miscarried embryos have shown abnormal karyotypes as well. (wikipedia.org)
- Increased maternal susceptibility to venous thrombosis has been associated with abnormal placentation [ 12 ]. (hindawi.com)
- Ask to have genetic counseling before making a decision about a karyotype test. (cigna.com)
- A karyotype test usually is done on a blood sample taken from a vein. (cigna.com)
- Bone marrow aspiration may be used for a karyotype test. (cigna.com)
- A sample taken by gently swabbing the tissues inside the cheek (called a buccal swab) sometimes is used for a karyotype test. (adventisthealthcare.com)
- This test checks for abnormal hormone levels that can result from the XXY condition. (kidshealth.org)
- This test is also called a karyotype analysis. (kidshealth.org)
- What is a karyotype test? (medlineplus.gov)
- A karyotype test is often used to help find genetic defects in a developing baby. (medlineplus.gov)
- Why do I need a karyotype test? (medlineplus.gov)
- If you are pregnant, you may want to get a karyotype test for your unborn baby if you have certain risk factors. (medlineplus.gov)
- You may also need a karyotype test if you have symptoms of or have been diagnosed with leukemia , lymphoma , or myeloma , or a certain type of anemia . (medlineplus.gov)
- What happens during a karyotype test? (medlineplus.gov)
- CMA test detects both large (whole chromosome) and very small (in exon level) chromosomal gains/losses, at an average revolution of 25 kb for karyotype&CMA for CLL, FISH&CMA for MM and CMA-Haematological. (sgh.com.sg)
- Karyotype&CMA for CLL is a test package that includes CMA and karyotyping for patients with chronic lymphocytic leukaemia (CLL). (sgh.com.sg)
- Cell lines provide a source of tumor karyotypes that permits much more detailed analysis than primary material, but there has been doubt about how well they represent primary tumors. (pnas.org)
- We have developed a method, called digital karyotyping, that provides quantitative analysis of DNA copy number at high resolution. (pnas.org)
- Karyotype analysis of the patient revealed 46 XY, del (13q22 -32). (pediatriconcall.com)
- If the patient has abnormal uterine development, müllerian agenesis is the likely cause and a karyotype analysis should confirm that the patient is 46,XX. (aafp.org)
Bone marrow specimen1
- Karyotype&CMA for CLL: collect 2-3ml peripheral blood/bone marrow specimen each in 2 lithium heparinized vacutainers. (sgh.com.sg)
- The acquisition of an abnormal karyotype in the setting of diagnosed AA is not infrequent, but estimates have been variable among published studies, due to differences in diagnostic criteria, patient populations, treatment protocols, and the frequency of follow-up BM examinations. (bloodjournal.org)
- a fleshy mass or tumor formed in the uterus by the degeneration or abnormal development of a zygote. (thefreedictionary.com)
- Mapping of the KARYOTYPE of a cell. (harvard.edu)
- In mosaics, there is a tendency for the abnormal cell line to disappear. (aappublications.org)
- Is there a directory with the expected karyotype of such a cell line? (protocol-online.org)
- Don't blame the ATCC, complete karyotype info on all the cell lines they have available is a herculean (and expensive)task, and one they have pretty much abandoned. (protocol-online.org)
- Yes, there are cell line databases, but many do not include karyotype, or like the ATCC, the information is out-of-date. (protocol-online.org)
- It arises from abnormal cell division during the development of either the sperm or the egg. (newhealthadvisor.org)
- Karyotyping" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
- A high frequency of abnormal uterus (81.9%) and ovaries (86.7%) were detected in our study. (nih.gov)