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*  NCCN Guidelines for Patients® | Myelodysplastic Syndromes
This drug should not be given if you have an abnormal chromosome 7, a complex karyotype (3 or more abnormalities), or a very ...
https://www.nccn.org/patients/guidelines/mds/44/
*  Rapid aneuploidy screening with fluorescence in-situ hybridisation: is it a sufficiently robust stand-alone test for prenatal...
Abnormal ultrasounds (70%) and maternal serum screens (21%) were the most indicative of chromosomal abnormalities. When ... When comparing fluorescence in-situ hybridisation data with karyotype results for all chromosomes, the sensitivity decreased to ... Despite abnormal ultrasound indications, fluorescence in-situ hybridisation missed 32 cases which included structural ... comparing fluorescence in-situ hybridisation data with karyotype results for the five chromosomes of interest, the sensitivity ...
http://www.hkmj.org/abstracts/v16n6/427.htm
*  Printable - Myelodysplastic Syndrome Unclassifiable - Surgical Pathology Criteria - Stanford University School of Medicine
Myelodysplasia is defined by morphologic features of abnormal cellular maturation in at least one bone marrow lineage. *Not all ... New insights into the prognostic impact of the karyotype in MDS and correlation with subtypes: evidence from a core dataset of ... Points are assigned based on abnormal findings. Points:. 0. 0.5. 1. 1.5. 2. ... Abnormal cytoplasmic granules (pseudo Chediak-Higashi granules) *Giant grey to red granules ...
http://surgpathcriteria.stanford.edu/mdsmps/unclassifiable-myelodysplastic-syndrome/printable.html
*  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 ...
http://www.bloodjournal.org/content/99/9/3129?ijkey=94128471de08e3c0c6b272ca04e3d374a8d102ae&keytype2=tf_ipsecsha&sso-checked=true
*  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 ...
https://jmg.bmj.com/content/44/7/417?ijkey=40459c04294d965114b06abfdde936b7a29fb0f6&keytype2=tf_ipsecsha
*  Insulin Resistance in Idiopathic Oligospermia and Azoospermia - Full Text View - ClinicalTrials.gov
abnormal karyotype. *AZF. Contacts and Locations. Go to Study Description Study Design Arms and Interventions Outcome Measures ...
https://clinicaltrials.gov/ct2/show/NCT01509482?recr=Open&cond=%22Insulins%22&rank=15
*  X-chromosome Inactivation, Epigenetics and the Transcriptome - Full Text View - ClinicalTrials.gov
XYY Karyotype. Disease. Pathologic Processes. Vascular Diseases. Cardiovascular Diseases. Aortic Diseases. Disorders of Sex ... Blood from 50 persons with Turner syndrome an karyotype 45,X mosaics ...
https://clinicaltrials.gov/ct2/show/NCT01678261?recr=Open&cond=%22Klinefelter+Syndrome%22&rank=4
*  Handbook of Genetic Counseling/Trisomy 13 - Advanced Maternal Age - Occupational Exposures - Wikibooks, open books for an open...
Show abnormal karyotypes (trisomy 13). *Give a general description of the clinical features and prognoses. *Trisomy 18 & 13 are ... Abnormal # miscarriages, stillbirths, infant deaths?. *Previous children with chromosome abnormality, Down syndrome, birth ... No association between use in the first trimester and abnormal morphologic development ...
https://en.wikibooks.org/wiki/Handbook_of_Genetic_Counseling/Trisomy_13_-_Advanced_Maternal_Age_-_Occupational_Exposures
*  Chromosomal X inactivation | definition of chromosomal X inactivation by Medical dictionary
abnormal karyotype; abnormalities can be detected before birth by means of amniocentesis, or after birth, but many are probably ... The chromosomal characteristics of an animal are referred to as its karyotype. This also refers to a photomicrograph of a cell ... The sex chromosomes are labeled X and Y. Karyotyping is useful in determining the presence of chromosome defects. ...
https://medical-dictionary.thefreedictionary.com/chromosomal+X+inactivation
*  Chromosomal abnormalities and copy number variations in fetal ventricular septal defects | SpringerLink
... karyotype analysis identified 16 chromosomal abnormalities in 151 VSD cases. Among the isolated-VSD fetuses, karyotyping only ... These three chromosomal abnormalities are associated with abnormal cardiac development, according to the DECIPHER database. ... Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012;367(23):2175-84.CrossRefGoogle Scholar ... In this study, we performed whole-genome scanning using SNP arrays as well as karyotyping of 151 fetuses that were diagnosed as ...
https://link.springer.com/article/10.1186/s13039-018-0408-y
*  Chromosomal Aberrations in Primary Amenorrhea: A Retrospective Study. - PubMed - NCBI
A total of 121 (24.7%) cases were identified with abnormal karyotype. The numerical chromosomal abnormalities were identified ... a) Metaphase showing dicentric X chromosome, (b) Partial karyotype of t (10; X), (c) Partial karyotype of del (Xq), (d) Partial ... The XY karyotype was detected in 29.8% females with PA. The PA individuals with anatomical abnormalities (84.3%) had a high ... The chromosomal preparations were done from the peripheral blood and subjected to giemsa-trypsin-giemsa banding and karyotyped ...
https://www.ncbi.nlm.nih.gov/pubmed/31293322
*  Publications | Max Planck Institute of Biochemistry
Stingele S, Stoehr G, Storchova Z (2013). Activation of autophagy in cells with abnormal karyotype. Autophagy:9(2):246-8. ... Donnelly N, Storchová Z (2014) Dynamic karyotype, dynamic proteome: Buffering the effects of aneuploidy. Biochim Biophys Acta. ...
https://www.biochem.mpg.de/en/rg/storchova/publications
*  NIH:OVCAR-3 [OVCAR3] ATCC ® HTB-161™ Homo sapiens ovary aden
Forms colonies in soft agar and has an abnormal karyotype.. Resistant to clinically relevant concentrations of adriamycin, ... Karyotype The cell line is aneuploid human female, with chromosome counts in the sub to near-triploid range. Several normal ... In addition to the marker chromosomes, there are a large number of other structurally abnormal and unassignable chromosomes ... loss and gain of chromosomes from cell to cell are noted in the exact chromosome counts and in the analysis of the karyotypes. ...
https://www.atcc.org/Products/All/HTB-161.aspx?slp=1
*  Pathology of Myelodysplastic Syndrome with Multilineage Dysplasia: Overview, Definition, Epidemiology
Cytogenetic abnormalities are relatively common in MDS with multilineage dysplasia (MDS-MLD); abnormal karyotypes are ... However, its utility in the setting of a morphologically adequate karyotyping study is limited. [14] FISH may also be of value ... 20] allows cases to be stratified on the basis of the percentage of blasts in the bone marrow, the karyotype, and the number of ... Morphologically abnormal cells may be seen in the peripheral blood or bone marrow of patients with myelodysplastic syndrome ...
https://emedicine.medscape.com/article/1644209-overview
*  Handbook of Genetic Counseling/Chorionic Villus Sampling (CVS) - Wikibooks, open books for an open world
Show abnormal karyotypes (trisomy 13, 18, 21, sex chromosome anomalies). *Give a general description of the clinical features ... Abnormal # miscarriages, stillbirths, infant deaths?. *Previous children with chromosome abnormality, NTD, Down syndrome, birth ...
https://en.wikibooks.org/wiki/Handbook_of_Genetic_Counseling/Chorionic_Villus_Sampling_
*  A Case of Acute Myeloid Leukemia with a Previously Unreported Translocation (14; 15) (q32; q13)
Repeated routine cytogenetic analysis revealed an abnormal karyotype with t (14; 15) (q32; q13) in 16 of 20 analyzed cells ( ... Routine cytogenetic analysis revealed a normal female karyotype (46, XX [21]). A multiplex, nested reverse transcription PCR ...
https://www.hindawi.com/journals/crig/2014/921240/
*  Virology by Christian - Issuu
These cells are heteroploid, having an abnormal karyotype from the original parent tissue. HeLa, HEp-2, A549, and Vero cells ...
https://issuu.com/christianmugabo/docs/virology
*  A comparison of non-integrating reprogramming methods. - PubMed - NCBI
All observed abnormal karyotypes are listed in . Donor age did not contribute to the increased rate of aneuploidy among Epi ...
https://www.ncbi.nlm.nih.gov/pubmed/?term=25437882
*  Non Invasive Diagnostic of Endometrial Receptivity
no abnormal karyotype. - generally healthy. - BMI 19-29 Kg/m2 (both inclusive). - 18 to 35 years old.. Exclusion criteria:. - ...
http://www.knowcancer.com/cancer-trials/NCT01588223/
*  Pathology Outlines - Plasma cell myeloma (multiple myeloma)
Typically lack CD56, more frequent abnormal karyotype *Bone pain and osteolytic lesions less common *Myeloma cells have ability ...
http://www.pathologyoutlines.com/topic/lymphomamyeloma.html
*  Amenorrhea: Background, Pathophysiology, Etiology
Premature ovarian failure due to abnormal karyotype (45,X mosaic/ring chromosome) ... 3] It is characterized by abnormal hypothalamic GnRH secretion, decreased gonadotropin pulsations, low or normal LH ... Although patients with this syndrome have a 46,XY karyotype and produce testicularly derived testosterone, the testosterone ... The hypergonadotropic hypogonadism category includes patients with abnormal sex chromosomes (ie, Turner syndrome), who make up ...
https://emedicine.medscape.com/article/252928-overview
*  nature.com search
Suppression of abnormal karyotype predicts superior survival in multiple myeloma *V Arzoumanian ... Rights & permissionsfor article Suppression of abnormal karyotype predicts superior survival in multiple myeloma . Opens in a ...
https://www.nature.com/search?author=%22J%20Crowley%22&error=cookies_not_supported&code=6548d795-3d98-481b-8231-8ff7038a804a
*  Myelodysplastic Syndromes | ARUPConsult Lab Test Selection
Use to clarify findings from an abnormal karyotype. *​Do not use FISH for MDS-related abnormalities on bone marrow samples ... Abnormal CBC or peripheral smear in the absence of obvious etiology - cytopenias and dysplastic cells in peripheral smear are ... Conventional Cytogenetics (Karyotype). Fluorescence in situ Hybridization. Cytogenomic Microarray Testing. Suggested Use. ... Patients who may have clonal genetic abnormalities that can be detected by cytogenomic SNP microarray include normal karyotype ...
https://arupconsult.com/content/myelodysplastic-syndromes