Abnormal karyotype. Medical search

A variation from the normal set of chromosomes characteristic of a species.

Mapping of the KARYOTYPE of a cell.

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)

Abnormal number or structure of chromosomes. Chromosome aberrations may result in 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)

The possession of a third chromosome of any one type in an otherwise diploid cell.

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).

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.

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.

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.

A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.

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.

The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.

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.

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.

Expulsion of the product of FERTILIZATION before completing the term of GESTATION and without deliberate interference.

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.

The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.

Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES.

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.

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.

Death of the developing young in utero. BIRTH of a dead FETUS is STILLBIRTH.

A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.

The part of a human or animal body connecting the HEAD to the rest of the body.

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.

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)

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.

Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.

A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.

The middle third of a human PREGNANCY, from the beginning of the 15th through the 28th completed week (99 to 196 days) of gestation.

The age of the mother in PREGNANCY.

The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility.

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.

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.

Abnormal genetic constitution in males characterized by an extra Y chromosome.

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.

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)

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.

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.

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.

An infant during the first month after birth.

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.

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)

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.).

Aberrant chromosomes with no ends, i.e., circular.

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.

The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.

Actual loss of portion of a chromosome.

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.

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)

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.

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.

The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.

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.

The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.

The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.

A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.

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.

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.

One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).

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.

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.

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.

The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.

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.

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.

A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.

The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.

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)

A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.

Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.

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.

The chromosome region which is active in nucleolus formation and which functions in the synthesis of ribosomal RNA.

A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.

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.

The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.

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)

The degree of replication of the chromosome set in the karyotype.

A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.

The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 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.

Any method used for determining the location of and relative distances between genes on a chromosome.

Turner syndrome isochromosome karyotype correlates with decreased dental crown width. (1/42)

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

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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)

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

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

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

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

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

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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 ...

https://en.wikipedia.org/wiki/Recurrent_miscarriage

... 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 ...

https://en.wikipedia.org/wiki/Chromosome

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 ...

https://en.wikipedia.org/wiki/Percutaneous_umbilical_cord_blood_sampling

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 ...

https://en.wikipedia.org/wiki/Polysomy

75% of abnormal karyotypes associated with choroid plexus cysts are trisomy 18, while the remainder are trisomy 21. There are ...

https://en.wikipedia.org/wiki/Choroid_plexus

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. ...

https://en.wikipedia.org/wiki/Medical_laboratory

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 ...

https://en.wikipedia.org/wiki/Immature_teratoma

... 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 ...

https://en.wikipedia.org/wiki/Myelodysplastic_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 ...

https://en.wikipedia.org/wiki/Pallister–Killian_syndrome

... 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 ...

https://en.wikipedia.org/wiki/Gonadoblastoma

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.[citation needed] Some examples of blastomas are ...

https://en.wikipedia.org/wiki/Blastoma

... can be defined as a species as it has its own clonal karyotype.[52] ... with 22-25 clonally abnormal chromosomes, known as HeLa signature chromosomes."[38][39][40][41] The signature chromosomes can ... Researchers have also noted how stable these aberrant karyotypes can be:[38] ... "Comprehensive and definitive molecular cytogenetic characterization of HeLa cells by spectral karyotyping". Cancer Res. 59 (1 ...

https://en.wikipedia.org/wiki/HeLa

... in high levels in the bone marrow of patients with a negative prognosis of acute myeloid leukemia and an abnormal karyotype. ...

https://en.wikipedia.org/wiki/CFAP298

... 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 ...

https://en.wikipedia.org/wiki/Klinefelter_syndrome

Abnormal and unfavorable karyotypes (e.g., loss of the long arm of chromosome 5 (5q-) and 7q-) and higher expression of the ...

https://en.wikipedia.org/wiki/Minimally_differentiated_acute_myeloblastic_leukemia

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. ...

https://en.wikipedia.org/wiki/Centromere

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 ...

https://en.wikipedia.org/wiki/Gonadal_dysgenesis

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 ...

https://en.wikipedia.org/wiki/Turner_syndrome

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 ...

https://en.wikipedia.org/wiki/Fluorescence_in_situ_hybridization

... and it excludes abnormal karyotypes. All patients underwent MD-TESE in Iran. Ethnicity and genetic lineage may affect treatment ...

https://en.wikipedia.org/wiki/Sertoli_cell-only_syndrome

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 ...

https://en.wikipedia.org/wiki/Murray_Barr

... 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 ...

https://en.wikipedia.org/wiki/XYYY_syndrome

... thickness Abnormal ductus venosus Abnormal fetal cardiac screening Major extracardiac abnormality Abnormal Fetal karyotype ...

https://en.wikipedia.org/wiki/Fetal_echocardiography

... 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, ...

https://en.wikipedia.org/wiki/Chromosome_abnormality

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. ...

https://en.wikipedia.org/wiki/Embryonic_stem_cell

... 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 ...

https://en.wikipedia.org/wiki/Karyotype

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 ...

https://en.wikipedia.org/wiki/Tetrasomy_X

... 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 ...

https://en.wikipedia.org/wiki/Virtual_karyotype

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.». ...

https://pt.m.wikipedia.org/wiki/NPM1

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 ...

https://en.m.wikipedia.org/wiki/Human_male_reproductive_system

... like karyotypes, cardiac echocardiograms, a renal sonogram, a platelet count, blood counts, a brain imaging study. [17]Genetic ... which is a bleeding disorder and causes a lifelong risk of abnormal bleeding and bruising due to dysfunction in the platelets.[ ...

https://en.wikipedia.org/wiki/Jacobsen_syndrome

... 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 ...

https://en.wikipedia.org/wiki/Medical_Genetics

Some hypothesize that an abnormal immune response to a common infection may be a trigger.[4] 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 ...

https://en.m.wikipedia.org/wiki/Acute_lymphoblastic_leukemia

... 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 ...

https://en.m.wikipedia.org/wiki/Myelofibrosis

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 ...

https://en.wikipedia.org/wiki/Congenital_disorder

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 ...

https://en.wikipedia.org/wiki/Ring_chromosome_18

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 ...

https://en.m.wikipedia.org/wiki/XY_sex-determination_system

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 ...

https://en.wikipedia.org/wiki/Isodicentric_15

These effects appear to result directly from the over-proliferation of abnormal platelet precursor cells.[11][12][33][34] ... 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 ...

https://en.wikipedia.org/wiki/GATA1

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 ...

https://en.wikipedia.org/wiki/Confined_placental_mosaicism

... 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 ...

https://en.m.wikipedia.org/wiki/Karyotype

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 ...

https://en.m.wikipedia.org/wiki/Cell_nuclei

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."[6] 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 ...

https://en.wikipedia.org/wiki/Gene_testing

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 ...

https://en.wikipedia.org/wiki/Nuchal_scan

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 ...

https://en.wikipedia.org/wiki/XYY_syndrome

In solid tumors, a majority of gene mutations are not recurrent types,[48] and neither are the karyotypes.[40][42] 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.[16][17][18] Researchers hypothesized ...

https://en.wikipedia.org/wiki/Somatic_evolution_in_cancer

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 ...

https://simple.wikipedia.org/wiki/Polyploidy

... "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 ...

https://en.wikipedia.org/wiki/Chromosome_abnormalities

The abnormal plasma cells produce abnormal antibodies, which can cause kidney problems and overly thick blood.[10] 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 ...

https://en.wikipedia.org/wiki/Multiple_myeloma

... the abnormal molars are apparently the result of a single autosomal recessive mutation.[75] At about 50%,[76] hematocrit (the ... The karyotype includes 56 chromosomes and a fundamental number of 60 chromosomal arms (2n = 56, FN = 60).[71] The form of the ... their karyotypes were also distinct.[29] Since then, the two have generally been retained as distinct species, as supported by ...

https://en.wikipedia.org/wiki/Marsh_rice_rat

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).[7] ... Traditionally, genetic abnormalities in neurodevelopmental disorders were detected using karyotype analysis, which found 5% of ...

https://en.m.wikipedia.org/wiki/Neurodevelopmental_disorder

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 ...

https://en.wikipedia.org/wiki/21-hydroxylase_deficiency

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 ...

https://en.wikipedia.org/wiki/Talk:Ploidy

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 ...

https://en.wikipedia.org/wiki/Partial_androgen_insensitivity_syndrome

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 ...

https://medlineplus.gov/ency/article/003935.htm

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 ...

https://www.symptoma.com/en/ddx/abnormal-karyotype-in-single-reported-female-patient

Abnormal Karyotype What does an Abnormal Karyotype Show?. by drtusharchauhan Analysing and interpreting an Abnormal karyotype ... An abnormal karyotype may show many things that are related to the health condition of a patient. A standard cytogenetic ...

https://karyotypinghub.com/tag/abnormal-karyotype/

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 ...

https://lookfordiagnosis.com/mesh_info.php?term=Abnormal+Karyotype&lang=1

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 ...

https://link.springer.com/article/10.1007/s13238-017-0479-2

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 ...

http://www.medindia.net/patientinfo/klinefelters-syndrome.htm

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 ...

https://www.cigna.com/individuals-families/health-wellness/hw/medical-tests/karyotype-test-hw6392

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

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. ...

https://researchoutput.ncku.edu.tw/en/publications/rapid-karyotyping-in-fetuses-with-abnormal-sonogram

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 ...

https://www.adventisthealthcare.com/health/library/topic/?id=hw6392

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 ...

https://www.medscape.com/viewarticle/915283_3

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 ...

https://exp-oncology.com.ua/article/14593/peculiarities-of-abnormal-karyotypes-formation-in-therapy-related-acute-leukemias

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 ...

https://www.cms.gov/icd10manual/fullcode_cms/P0266.html

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 ...

https://www.icd10data.com/ICD10CM/Codes/Q00-Q99/Q90-Q99/Q96-/Q96.2

Abnormal Karyotype of Fetuses With Omphalocele: Prediction Based on Omphalocele Contents. BENACERRAF, BERYL R.; SALTZMAN, ...

https://journals.lww.com/greenjournal/pages/author.aspx?firstName=FREDRIC&middleName=D.&lastName=FRIGOLETTO

https://en.m.wikipedia.org/wiki/Karyotype

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 ...

https://answersingenesis.org/creation-science/baraminology/karyotype-variability-within-the-cattle-monobaramin/

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 , . ...

https://www.ncbi.nlm.nih.gov/pubmed/22096250

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

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

Abnormal karyotype. *Patients practicing excessive exercise. SAMPLE SIZE CALCULATION AND STATISTICS. With a test level of 5% ( ...

https://www.clinicaltrials.gov/ct2/show?term=CALCIUM+CATION&rank=93

Helix abnormal. Mouth:. Palate deeply furrowed. Lab:. Normal karyotype. Neuro:. Hypotonia. Mental retardation ...

https://everything2.com/title/Opitz+Trigonocephaly+Syndrome

IN FETUSES WITH AN ABNORMAL SONOGRAM AND NORMAL KARYOTYPE ...

https://avesis.istanbul.edu.tr/yayin/8f218180-2e26-4c94-a9c7-f4b9e3696b67/application-of-mlpa-multiplex-ligation-dependent-probe-amplification-in-fetuses-with-an-abnormal-sonogram-and-normal-karyotype

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

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 ...

https://www.encyclopedia.com/medicine/encyclopedias-almanacs-transcripts-and-maps/genetic-patau-syndrome

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. ...

https://www.merlot.org/merlot/viewMaterial.htm?id=797073

... 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 ...

https://phgkb.cdc.gov/PHGKB/phgHome.action?action=forward&dbsource=phg&id=28551

Karyotype modal number = 78; range = 73 to 80.. The cell line is aneuploid human female, with chromosome counts in the ... The X chromosomes are all abnormal. Normal chromosomes N10 and N13 are clearly under-represented, with chromosomes N2, N12, and ...

https://www.atcc.org/en/Products/Cells_and_Microorganisms/By_Tissue/Breast/HTB-122.aspx?p=1&rel=%7B0%7D

... 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. ...

https://www.hindawi.com/journals/jir/2012/175041/

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 ...

https://ssl.adam.com/content.aspx?productid=117&pid=1&gid=003935&site=atlantichealthssl.adam.com&login=ATLA1992

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 [5]. (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)
[4] 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)

The results demonstrate that our D-FISH method effectively identified all abnormal samples, including a low-level MRD sample that was considered to be normal by conventional cytogenetic analysis. (nature.com)
Results: Cytogenetic analysis revealed predominantly complex karyotypes. (elsevier.com)

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)

In most affected patients, this karyotype is found in all cells (trisomy). (newhealthadvisor.org)
And FISH can see additional abnormal duplications of the Philadelphia chromosome and trisomy 8, which have prognostic significance. (cap.org)

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)

Abnormal # miscarriages, stillbirths, infant deaths? (wikibooks.org)
If you are a woman, you may need a karyotype test if you've had trouble getting pregnant or have had several miscarriages. (medlineplus.gov)

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)

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)

Karyotype testing can be done using almost any cell or tissue from the body. (cigna.com)
Instead, Rescue Karyotyping allows physicians to obtain important genetic information from archived miscarriage tissue that had not been tested at the time of the miscarriage. (medicalxpress.com)

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 ) [5] 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)

The clinical course depended on the specific abnormal cytogenetic pattern. (bloodjournal.org)
To determine ways of formation of abnormal karyotypes in two clinical cases of secondary acute leukemias of myeloid and lymphoid lineages. (exp-oncology.com.ua)

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)

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)

Two known chromosome locations - on chromosome 16 (16p11.2) and chromosome 15 (15q13.2q13.3) accounted for 17 percent of abnormal CMA findings. (innovations-report.com)
None of the members had an increased head size or abnormal cutaneous findings. (omicsonline.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)

Anatomy26

Diseases30

Chemicals and Drugs1

Analytical, Diagnostic and Therapeutic Techniques and Equipment16

Psychiatry and Psychology2

Phenomena and Processes48

Disciplines and Occupations1

Named Groups1

Health Care2

Turner syndrome isochromosome karyotype correlates with decreased dental crown width. (1/42)

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

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

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

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

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

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

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

Abnormal Karyotype

Karyotyping

Karyotype

Chromosome Aberrations

Chromosome Disorders

Trisomy

Aneuploidy

Cytogenetics

Sex Chromosome Aberrations

Chromosome Banding

Translocation, Genetic

Ultrasonography, Prenatal

Monosomy

Cytogenetic Analysis

In Situ Hybridization, Fluorescence

Abortion, Spontaneous

Amniocentesis

Pregnancy

Abnormalities, Multiple

Fetal Diseases

Pregnancy Trimester, First

Myelodysplastic Syndromes

Fetal Death

Chromosomes, Human, Pair 18

Neck

Leukemia, Myeloid, Acute

Down Syndrome

Gestational Age

Prenatal Diagnosis

Chromosomes, Human, Pair 8

Pregnancy Trimester, Second

Maternal Age

Infertility, Male

Pregnancy Outcome

Turner Syndrome

XYY Karyotype

Prognosis

Leukemia

Immunophenotyping

Mosaicism

Retrospective Studies

Chromosome Painting

Infant, Newborn

Isochromosomes

Chromosomes

Klinefelter Syndrome

Ring Chromosomes

Spectral Karyotyping

Diploidy

Chromosome Deletion

Chromosomes, Human, 6-12 and X

Sex Chromosomes

Chromosome Inversion

Leukemia, Myeloid

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

Y Chromosome

Chromosomes, Human, 21-22 and Y

Disorders of Sex Development

Gene Rearrangement

Chromosomes, Human

X Chromosome

Chromosomes, Human, Pair 21

Polyploidy

Intellectual Disability

Chromosomes, Human, Pair 7

Chromosomes, Plant

Gonadal Dysgenesis, 46,XY

Nucleolus Organizer Region

Chromosomes, Human, Pair 11

Metaphase

Chromosomes, Human, 4-5

Sex Chromatin

Ploidies