AnatomyDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesDisciplines and OccupationsNamed GroupsHealth Care
Abnormal KaryotypeKaryotypingKaryotypeChromosome AberrationsChromosome DisordersTrisomyAneuploidyCytogeneticsSex Chromosome AberrationsChromosome BandingTranslocation, GeneticUltrasonography, PrenatalMonosomyCytogenetic AnalysisIn Situ Hybridization, FluorescenceAbortion, SpontaneousAmniocentesisPregnancyAbnormalities, MultipleFetal DiseasesPregnancy Trimester, FirstMyelodysplastic SyndromesFetal DeathChromosomes, Human, Pair 18NeckLeukemia, Myeloid, AcuteDown SyndromeGestational AgePrenatal DiagnosisChromosomes, Human, Pair 8Pregnancy Trimester, SecondMaternal AgeInfertility, MalePregnancy OutcomeTurner SyndromeXYY KaryotypePrognosisLeukemiaImmunophenotypingMosaicismRetrospective StudiesChromosome PaintingInfant, NewbornIsochromosomesChromosomesKlinefelter SyndromeRing ChromosomesSpectral KaryotypingDiploidyChromosome DeletionChromosomes, Human, 6-12 and XSex ChromosomesChromosome InversionLeukemia, MyeloidChromosomes, Human, XChorionic Villi SamplingChromosomes, Human, 16-18Chromosomes, Human, YChromosomes, Human, Pair 13Nuchal Translucency Measurementfms-Like Tyrosine Kinase 3Chromosomes, Human, Pair 5Y ChromosomeChromosomes, Human, 21-22 and YDisorders of Sex DevelopmentGene RearrangementChromosomes, HumanX ChromosomeChromosomes, Human, Pair 21PolyploidyIntellectual DisabilityChromosomes, Human, Pair 7Chromosomes, PlantGonadal Dysgenesis, 46,XYNucleolus Organizer RegionChromosomes, Human, Pair 11MetaphaseChromosomes, Human, 4-5Sex ChromatinPloidiesChromosomes, Human, Pair 22Chromosomes, Human, 1-3Gonadal DysgenesisChromosome Mapping
Abnormal Karyotype: A variation from the normal set of chromosomes characteristic of a species.Karyotyping: Mapping of the KARYOTYPE of a cell.Karyotype: The full set of CHROMOSOMES presented as a systematized array of METAPHASE chromosomes from a photomicrograph of a single CELL NUCLEUS arranged in pairs in descending order of size and according to the position of the CENTROMERE. (From Stedman, 25th ed)Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.Chromosome Disorders: Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell.Aneuploidy: 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).Cytogenetics: A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE.Sex Chromosome Aberrations: Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT.Chromosome Banding: 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.Translocation, Genetic: A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.Ultrasonography, Prenatal: The visualization of tissues during pregnancy through recording of the echoes of ultrasonic waves directed into the body. The procedure may be applied with reference to the mother or the fetus and with reference to organs or the detection of maternal or fetal disease.Monosomy: The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.Cytogenetic Analysis: Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed.In Situ Hybridization, Fluorescence: A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.Abortion, Spontaneous: Expulsion of the product of FERTILIZATION before completing the term of GESTATION and without deliberate interference.Amniocentesis: Percutaneous transabdominal puncture of the uterus during pregnancy to obtain amniotic fluid. It is commonly used for fetal karyotype determination in order to diagnose abnormal fetal conditions.Pregnancy: The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.Abnormalities, MultipleFetal Diseases: Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES.Pregnancy Trimester, First: The beginning third of a human PREGNANCY, from the first day of the last normal menstrual period (MENSTRUATION) through the completion of 14 weeks (98 days) of gestation.Myelodysplastic Syndromes: Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA.Fetal Death: Death of the developing young in utero. BIRTH of a dead FETUS is STILLBIRTH.Chromosomes, Human, Pair 18: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Neck: The part of a human or animal body connecting the HEAD to the rest of the body.Leukemia, Myeloid, Acute: Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES.Down Syndrome: 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)Gestational Age: The age of the conceptus, beginning from the time of FERTILIZATION. In clinical obstetrics, the gestational age is often estimated as the time from the last day of the last MENSTRUATION which is about 2 weeks before OVULATION and fertilization.Prenatal Diagnosis: Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.Chromosomes, Human, Pair 8: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Pregnancy Trimester, Second: The middle third of a human PREGNANCY, from the beginning of the 15th through the 28th completed week (99 to 196 days) of gestation.Maternal Age: The age of the mother in PREGNANCY.Infertility, Male: The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility.Pregnancy Outcome: Results of conception and ensuing pregnancy, including LIVE BIRTH; STILLBIRTH; SPONTANEOUS ABORTION; INDUCED ABORTION. The outcome may follow natural or artificial insemination or any of the various ASSISTED REPRODUCTIVE TECHNIQUES, such as EMBRYO TRANSFER or FERTILIZATION IN VITRO.Turner Syndrome: 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.XYY Karyotype: Abnormal genetic constitution in males characterized by an extra Y chromosome.Prognosis: A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.Leukemia: 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)Immunophenotyping: Process of classifying cells of the immune system based on structural and functional differences. The process is commonly used to analyze and sort T-lymphocytes into subsets based on CD antigens by the technique of flow cytometry.Mosaicism: The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.Retrospective Studies: 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.Chromosome Painting: 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.Infant, Newborn: An infant during the first month after birth.Isochromosomes: 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.Chromosomes: In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Klinefelter Syndrome: 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.).Ring Chromosomes: Aberrant chromosomes with no ends, i.e., circular.Spectral Karyotyping: The simultaneous identification of all chromosomes from a cell by fluorescence in situ hybridization (IN SITU HYBRIDIZATION, FLUORESCENCE) with chromosome-specific florescent probes that are discerned by their different emission spectra.Diploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.Chromosome Deletion: Actual loss of portion of a chromosome.Chromosomes, Human, 6-12 and X: The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.Sex Chromosomes: 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)Chromosome Inversion: An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome.Leukemia, Myeloid: Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (MYELOID PROGENITOR CELLS) in the bone marrow and other sites.Chromosomes, Human, X: The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.Chorionic Villi Sampling: A method for diagnosis of fetal diseases by sampling the cells of the placental chorionic villi for DNA analysis, presence of bacteria, concentration of metabolites, etc. The advantage over amniocentesis is that the procedure can be carried out in the first trimester.Chromosomes, Human, 16-18: The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.Chromosomes, Human, Y: The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.Chromosomes, Human, Pair 13: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Nuchal Translucency Measurement: A prenatal ultrasonography measurement of the soft tissue behind the fetal neck. Either the translucent area below the skin in the back of the fetal neck (nuchal translucency) or the distance between occipital bone to the outer skin line (nuchal fold) is measured.fms-Like Tyrosine Kinase 3: A receptor tyrosine kinase that is involved in HEMATOPOIESIS. It is closely related to FMS PROTO-ONCOGENE PROTEIN and is commonly mutated in acute MYELOID LEUKEMIA.Chromosomes, Human, Pair 5: One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).Y Chromosome: The male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans and in some other male-heterogametic species in which the homologue of the X chromosome has been retained.Chromosomes, Human, 21-22 and Y: The short, acrocentric human chromosomes, called group G in the human chromosome classification. This group consists of chromosome pairs 21 and 22 and the Y chromosome.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.Gene Rearrangement: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.Chromosomes, Human: Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.X Chromosome: The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.Chromosomes, Human, Pair 21: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Polyploidy: The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.Intellectual Disability: 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: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Plant: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.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: The chromosome region which is active in nucleolus formation and which functions in the synthesis of ribosomal RNA.Chromosomes, Human, Pair 11: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Metaphase: The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.Chromosomes, Human, 4-5: The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.Sex Chromatin: In the interphase nucleus, a condensed mass of chromatin representing an inactivated X chromosome. Each X CHROMOSOME, in excess of one, forms sex chromatin (Barr body) in the mammalian nucleus. (from King & Stansfield, A Dictionary of Genetics, 4th ed)Ploidies: The degree of replication of the chromosome set in the karyotype.Chromosomes, Human, Pair 22: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosomes, Human, 1-3: The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.Gonadal Dysgenesis: 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.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.
(1/42) Turner syndrome isochromosome karyotype correlates with decreased dental crown width.

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(2/42) Altered patterns of differentiation in karyotypically abnormal human embryonic stem cells.

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(3/42) Classifying cytogenetics in patients with acute myelogenous leukemia in complete remission undergoing allogeneic transplantation: a Center for International Blood and Marrow Transplant Research study.

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(4/42) Clinical diagnostic testing for the cytogenetic and molecular causes of male infertility: the Mayo Clinic experience.

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(5/42) Mesenchymal stromal cells of myelodysplastic syndrome and acute myeloid leukemia patients have distinct genetic abnormalities compared with leukemic blasts.

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(6/42) Maternally inherited partial monosomy 9p (pter --> p24.1) and partial trisomy 20p (pter --> p12.1) characterized by microarray comparative genomic hybridization.

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(7/42) Inflammatory cytokines in maternal circulation and placenta of chromosomally abnormal first trimester miscarriages.

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(8/42) Allele-specific copy number analysis of tumor samples with aneuploidy and tumor heterogeneity.

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AnatomyDiseasesAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesDisciplines and OccupationsInformation Science
Abnormal KaryotypeKaryotypingKaryotypeChromosome AberrationsChromosome DisordersTrisomyAneuploidyCytogeneticsSex Chromosome AberrationsChromosome BandingTranslocation, GeneticUltrasonography, PrenatalMonosomyCytogenetic AnalysisIn Situ Hybridization, FluorescenceAbortion, SpontaneousAmniocentesisPregnancyAbnormalities, MultipleFetal DiseasesPregnancy Trimester, FirstMyelodysplastic SyndromesFetal DeathChromosomes, Human, Pair 18NeckLeukemia, Myeloid, AcuteGonadoblastomaDandy-Walker SyndromeDNA Copy Number VariationsXYY KaryotypeEncyclopedias as Topic
*  Fetal echocardiography
... thickness Abnormal ductus venosus Abnormal fetal cardiac screening Major extracardiac abnormality Abnormal Fetal karyotype ...
*  Nuchal scan
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 ...
*  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 ...
*  Choroid plexus
75% of abnormal karyotypes associated with choroid plexus systs are trisomy 18, while the remainder are trisomy 21. There are ...
*  Blastoma
In the case of retinoblastoma, patients carry a visibly abnormal karyotype, with a loss of function mutation on a specific band ... practitioners may karyotype the patient before proceeding with treatment.[citation needed] Hepatoblastoma Medulloblastoma ...
*  C21orf59
... in high levels in the bone marrow of patients with a negative prognosis of acute myeloid leukemia and an abnormal karyotype. ...
*  Klinefelter syndrome
... 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 Klinefelter syndrome. Jacobs described her discovery of this ... KS is diagnosed by the genetic test known as a karyotype. While there is no cure, 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 ...
*  Sertoli cell-only syndrome
... and it excludes abnormal karyotypes. All patients underwent MD-TESE in Iran. Ethnicity and genetic lineage may have an impact ...
*  Embryonic stem cell
EC cells harbor genetic mutations and often abnormal karyotypes that accumulated during the development of the teratocarcinoma ... Embryonic stem cell's properties include having a normal karyotype, maintaining high telomerase activity, and exhibiting ...
*  Gonadoblastoma
... is most often associated with an abnormal chromosomal karyotype, gonadal dysgenesis, or the presence of a Y ... "Gonadoblastoma progressing to dysgerminoma in a 55-year-old woman with normal karyotype". Pathology. 39 (2): 284-5. doi:10.1080 ...
*  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 ...
*  45,X/46,XY mosaicism
Most patients with this karyotype are known to have abnormal gonadal histology and heights considerably below their genetic ... This is called a mosaic karyotype because, like tiles in mosaic floors or walls, there is more than one type of cell. There are ... This is called a mosaic karyotype because, like tiles in mosaic floors or walls, there is more than one type of cell. The ... These rearrangements of the Y chromosome can lead to partial expression of the SRY gene which may lead to abnormal genitals and ...
*  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. In situ hybridization, the technique ...
*  Chromosome
... 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 ...
*  ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities
Karyotype 45,X (Q96.1) Karyotype 46,X iso (Xq) (Q96.2) Karyotype 46,X with abnormal sex chromosome, except iso (Xq) (Q96.3) ... Karyotype 47,XYY (Q98.6) Male with structurally abnormal sex chromosome (Q98.7) Male with sex chromosome mosaicism (Q98.8) ... XX karyotype (Q98.3) Other male with 46,XX karyotype - XX male syndrome (Q98.4) Klinefelter's syndrome, unspecified (Q98.5) ... Balanced autosomal rearrangement in abnormal individual (Q95.3) Balanced sex/autosomal rearrangement in abnormal individual ( ...
*  Virtual karyotype
... 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 ...
*  Rett syndrome
Without a normal gene to provide normal proteins in addition to the abnormal proteins caused by a MECP2 mutation, the XY ... Research shows that males with Rett syndrome may result from Klinefelter's syndrome, in which the male has an XXY karyotype. ... There have, however, been several cases of 46,XY karyotype males with a MECP2 mutation (associated with classical Rett syndrome ... XXY Karyotype Confirmed by a Rare Mutation in the MECP2 Gene". Neuropediatrics. 32 (3): 162-4. doi:10.1055/s-2001-16620. PMID ...
*  Polysomy
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 ...
*  Medical laboratory
Cytogenetics involves using blood and other cells to get a karyotype. This can be helpful in prenatal diagnosis (e.g. Down's ... In some countries staff like clinical scientists do the majority of this work inside the laboratory with abnormal results ... syndrome) as well as in cancer (some cancers have abnormal chromosomes). Surgical pathology examines organs, limbs, tumors, ...
*  Murray Barr
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 ...
*  Pallister-Killian syndrome
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 ...
*  Turner syndrome
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 ... The first published report of a female with a 45,X karyotype was in 1959 by Dr. Charles Ford and colleagues in Harwell, ...
*  Copy number analysis
Array comparative genomic hybridization Bioinformatics DNA microarray Virtual Karyotype Sebat, J.; et al. (2007). "Strong ... an abnormal copy number state). Positive log-ratios indicate a region of DNA copy number gain and negative log-ratio values ... and they are also referred to as Virtual Karyotype. Data analysis for an array-based DNA copy number test can be very ...
*  Marsh rice rat
The karyotype includes 56 chromosomes and a fundamental number of 60 chromosomal arms (2n = 56, FN = 60). The form of the sex ... Mutants with fused or additional molars and with light fur have been recorded in laboratory colonies; the abnormal molars are ... their karyotypes were also distinct. Since then, the two have generally been retained as distinct species, as supported by ...
*  XYY syndrome
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 ...
*  Potocki-Lupski syndrome
Molina, J; Carmona-Mora, P; Chrast, J; Krall, PM; Canales, CP; Lupski, JR; Reymond, A; Walz, K (15 August 2008). "Abnormal ... To ascertain the diagnosis when karyotyping results are unclear or negative, more sophisticated techniques such as subtelomeric ... abnormal social behaviors, learning disabilities, attention-deficit disorder, obsessive-compulsive behaviours, malocclusions, ... One human autism-related symptom is abnormal reciprocal social interaction. The researchers observed that the genetically- ...
*  HeLa
... can be defined as a species as it has its own clonal karyotype. Van Valen proposed the new family Helacytidae and the ... with 22-25 clonally abnormal chromosomes, known as HeLa signature chromosomes." The signature chromosomes can be derived from ... Researchers have also noted how stable these aberrant karyotypes can be: Human papillomaviruses (HPVs) are frequently ... "Comprehensive and definitive molecular cytogenetic characterization of HeLa cells by spectral karyotyping". Cancer Res. 59 (1 ...
DiseasesAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesDisciplines and Occupations
Abnormal KaryotypeKaryotypingKaryotypeChromosome AberrationsChromosome DisordersTrisomyAneuploidyCytogeneticsSex Chromosome AberrationsChromosome BandingTranslocation, GeneticUltrasonography, PrenatalMonosomyCytogenetic AnalysisIn Situ Hybridization, FluorescenceAbortion, SpontaneousAmniocentesisPregnancyAbnormalities, MultipleFetal DiseasesPregnancy Trimester, First
Losing balance: the origin and impact of aneuploidy in cancer | EMBO Reports  Losing balance: the origin and impact of aneuploidy in cancer | EMBO Reports
Abnormal karyotypes in cancer. Aneuploidy is a remarkably common feature of human cancer, present in ∼90% of solid human ... we highlight the pathways by which tumour cells acquire abnormal karyotypes, discuss the evidence for the role of aneuploidy in ... Sheltzer JM, Amon A (2011) The aneuploidy paradox: costs and benefits of an incorrect karyotype. Trends Genet 27: 446-453. ... Targeting the aneuploid karyotype. The acquisition of an additional chromosome in yeast cells or MEFs suppresses cellular ...
more infohttp://embor.embopress.org/content/13/6/501
Rapid aneuploidy screening with fluorescence in-situ hybridisation: is it a sufficiently robust stand-alone test for prenatal...  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 ...
more infohttp://www.hkmj.org/abstracts/v16n6/427.htm
Trisomy 18 (Edwards), Trisomy 13 (Patau) | Pediatrics Clerkship | The University of Chicago  Trisomy 18 (Edwards), Trisomy 13 (Patau) | Pediatrics Clerkship | The University of Chicago
Trisomy 18 is confirmed by karyotype with FISH analysis.. Prognosis. Trisomy 18 is associated with severe mental retardation ... Abnormal ears. * Sloping forehead. * Cutis aplasia ("punched out lesions" of the scalp) ...
more infohttps://pedclerk.bsd.uchicago.edu/page/trisomy-18-edwards-trisomy-13-patau
Distinct clinical outcomes for cytogenetic abnormalities evolving from aplastic anemia | Blood Journal  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 ...
more infohttp://www.bloodjournal.org/content/99/9/3129?ijkey=94128471de08e3c0c6b272ca04e3d374a8d102ae&keytype2=tf_ipsecsha&sso-checked=true
MECP2 mutations in males | Journal of Medical Genetics  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 ...
more infohttps://jmg.bmj.com/content/44/7/417?ijkey=40459c04294d965114b06abfdde936b7a29fb0f6&keytype2=tf_ipsecsha
Insulin Resistance in Idiopathic Oligospermia and Azoospermia - Full Text View - ClinicalTrials.gov  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 ...
more infohttps://clinicaltrials.gov/ct2/show/NCT01509482?recr=Open&cond=%22Insulins%22&rank=15
X-chromosome Inactivation, Epigenetics and the Transcriptome - Full Text View - ClinicalTrials.gov  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 ...
more infohttps://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...  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 ...
more infohttps://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  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. ...
more infohttps://medical-dictionary.thefreedictionary.com/chromosomal+X+inactivation
Chromosomal abnormalities and copy number variations in fetal ventricular septal defects | SpringerLink  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 ...
more infohttps://link.springer.com/article/10.1186/s13039-018-0408-y
Chromosomal Aberrations in Primary Amenorrhea: A Retrospective Study. - PubMed - NCBI  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 ...
more infohttps://www.ncbi.nlm.nih.gov/pubmed/31293322
Publications | Max Planck Institute of Biochemistry  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. ...
more infohttps://www.biochem.mpg.de/en/rg/storchova/publications
NIH:OVCAR-3 [OVCAR3] ATCC ® HTB-161™ Homo sapiens ovary aden  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. ...
more infohttps://www.atcc.org/Products/All/HTB-161.aspx?slp=1
The corepressors BCOR and BCORL1: two novel players in acute myeloid leukemia | Haematologica  The corepressors BCOR and BCORL1: two novel players in acute myeloid leukemia | Haematologica
65%) of abnormal karyotypes.9 Similarly to mutations of BCOR, most of the alterations affecting BCORL1 were nonsense mutations ... 8 BCORL1 mutations mostly occurred in patients with s-AML and/or with abnormal karyotype, and carried germline TP53, CEBPA and ... 2005) Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype. N Engl J Med 352(3):254-66. ... 2011) Whole-exome sequencing identifies mutations of BCOR in acute myeloid leukemia with normal karyotype. Blood 118(23):6153- ...
more infohttp://www.haematologica.org/content/97/1/3
A Case of Acute Myeloid Leukemia with a Previously Unreported Translocation (14; 15) (q32; q13)  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 ...
more infohttps://www.hindawi.com/journals/crig/2014/921240/
Virology by Christian - Issuu  Virology by Christian - Issuu
These cells are heteroploid, having an abnormal karyotype from the original parent tissue. HeLa, HEp-2, A549, and Vero cells ...
more infohttps://issuu.com/christianmugabo/docs/virology
Pathology of Myelodysplastic Syndrome with Multilineage Dysplasia: Overview, Definition, Epidemiology  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 ...
more infohttps://emedicine.medscape.com/article/1644209-overview
Handbook of Genetic Counseling/Chorionic Villus Sampling (CVS) - Wikibooks, open books for an open world  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 ...
more infohttps://en.wikibooks.org/wiki/Handbook_of_Genetic_Counseling/Chorionic_Villus_Sampling_
A comparison of non-integrating reprogramming methods. - PubMed - NCBI  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 ...
more infohttps://www.ncbi.nlm.nih.gov/pubmed/?term=25437882
Use of metabolomics for the identification and validation of clinical biomarkers for preterm birth: Preterm SAMBA | BMC...  Use of metabolomics for the identification and validation of clinical biomarkers for preterm birth: Preterm SAMBA | BMC...
Major Foetal Anomaly/Abnormal Karyotype. • Knife cone biopsy. • Essential Hypertension Treated Pre-pregnancy ...
more infohttps://bmcpregnancychildbirth.biomedcentral.com/articles/10.1186/s12884-016-1006-9
AnatomyDiseasesAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesDisciplines and Occupations
Abnormal KaryotypeKaryotypingKaryotypeChromosome AberrationsChromosome DisordersTrisomyAneuploidyCytogeneticsSex Chromosome AberrationsChromosome BandingTranslocation, GeneticUltrasonography, PrenatalMonosomyCytogenetic AnalysisIn Situ Hybridization, FluorescenceAbortion, SpontaneousAmniocentesisPregnancyAbnormalities, MultipleFetal DiseasesPregnancy Trimester, FirstMyelodysplastic SyndromesFetal DeathChromosomes, Human, Pair 18Neck
ChromosomeTrisomyChromosomal abnormalitiesUltrasoundBoneDiagnosisFindingsFemalesDeathsPatientsCellsStudy
Chromosome1search
Trisomy1search
Chromosomal abnormalities1search
Ultrasound1search
Bone1search
Diagnosis1search
Findings1search
Females1search
Deaths1search
Patients1search
Cells2search
Study2search
  • In this study, we performed whole-genome scanning using SNP arrays as well as karyotyping of 151 fetuses that were diagnosed as having VSD by ultrasonic cardiography. (springer.com)
  • A high frequency of abnormal uterus (81.9%) and ovaries (86.7%) were detected in our study. (nih.gov)