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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EEGs came back abnormal. High-resolution karyotypes came back normal. The brother had a history of seizures and psychomotor ...

https://en.wikipedia.org/wiki/Hall-Riggs_syndrome

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

This is based on recognizing the central role of karyotype analysis in the investigation of most cases of DSD, and knowledge in ... 46, XY DSD: patients with abnormal testicular differentiation, defects in testosterone biosynthesis, and impaired testosterone ... XX Testicular DSD is a condition where an individual with an XX karyotype has a male appearance. Genitalia can range from ... DSDs are subdivided into groups in which the labels generally emphasize the karyotype's role in diagnosis: 46,XX; 46,XY; sex ...

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

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 genital development includes disorders of fetal origin, disorders in androgen synthesis or action, disorders in anti- ... Males with Klinefelter syndrome usually have a karyotype of 47,XXY as a result of having two or more X chromosomes. Affected ... Peripheral blood is collected for karyotyping. This helps classify the patient in one of the three main categories of DSD: ... in abnormal cases, sexual anomalies occur due to a variety of factors that lead to an excess of androgens in the fetus. The ...

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

... 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): 284-285. doi: ...

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 ... practitioners may karyotype the patient before proceeding with treatment.[citation needed] Some examples of blastomas are ... The usual signs and symptoms for this disease are an abnormal abdominal mass, along with abdominal pain or obstructive jaundice ...

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

... 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

... 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 typical female karyotype) and 47,XXX cells, may have an increased risk of chromosomally abnormal children. First reported ... XXX karyotype. Differential diagnosis remains indicated when the phenotype is particularly severe for what a 47,XXX karyotype ... The most common karyotype in trisomy X is 47,XXX, where all cells have an additional copy of the X chromosome. Mosaicism, where ... Karyotype' as a term has multiple meanings, all of which are used here. It may refer to a person's chromosome complement, to ...

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

... 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

X0 karyotypes to have an average height of 145 cm (4 ft 9 in), while those with 45,X0/46,XX karyotypes averaged 159 cm (5 ft 2+ ... The abnormal cells may have only one X (monosomy) (45,X) or they may be affected by one of several types of partial monosomy ... The risk of diabetes in Turner syndrome varies by karyotype and appears to be raised by specific deletions of the short arm of ... 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 ... This type of karyotyping is used specifically when seeking out chromosome arrangements. FISH can be used to study the evolution ... Virtual karyotyping is another cost-effective, clinically available alternative to FISH panels using thousands to millions of ...

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

Researchers have also noted how stable these aberrant karyotypes can be. Studies that combined spectral karyotyping, FISH, and ... with 22-25 clonally abnormal chromosomes, known as "HeLa signature chromosomes". The signature chromosomes can be derived from ... HeLa can be defined as a species as it has its own clonal karyotype. Van Valen proposed the new family Helacytidae and the ... "Comprehensive and definitive molecular cytogenetic characterization of HeLa cells by spectral karyotyping". Cancer Res. 59 (1 ...

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

... 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

Abnormal results from FISH studies should be confirmed with other cytogenetic testing, as false positives and negatives are ... FISH is capable of providing a limited karyotype and, along with the aforementioned trisomies, can also detect aneuploidies in ... were able to culture amniocytes that could undergo karyotyping. Their work opened the door to the prenatal diagnosis of ... The amniotic fluid is sampled and analyzed via methods such as karyotyping and DNA analysis technology for genetic ...

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

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

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

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 ...

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

... 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, ... Warrender JD, Moorman AV, Lord P (2019). "A fully computational and reasonable representation for karyotypes". Bioinformatics. ...

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

Abnormal TSH should prompt a thyroid workup with a full thyroid function test panel. Elevated prolactin should be followed with ... If a uterus is not present on ultrasound, karyotype analysis and testosterone levels are obtained to assess for MRKH or ... Abnormal TSH levels prompt evaluation for hyper- and hypo-thyroidism with additional thyroid function tests. Elevated prolactin ... Spontaneous Thelarche and Menarche Stratified by Karyotype". Hormone Research in Paediatrics. 92 (3): 143-149. doi:10.1159/ ...

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

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

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

Digital Karyotyping: Detects copy number variation using genomics tags obtained via restriction enzyme digests. These tags are ... rather than simply altered as a consequence of abnormal cell proliferation. The role of mtDNA content in human cancers ... Hu M, Yao J, Polyak K (2006). "Methylation-specific digital karyotyping". Nat Protoc. 1 (3): 1621-36. doi:10.1038/nprot. ... "Digital karyotyping reveals frequent inactivation of the dystrophin/DMD gene in malignant melanoma". Cell Cycle. 6 (2): 189-98 ...

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

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.m.wikipedia.org/wiki/Ploidy

... s play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the ... other karyotypes/mosaics. *Klinefelter syndrome (47,XXY). *XXYY syndrome (48,XXYY). *XXXY syndrome (48,XXXY) ... a blood disorder in which the body produces an abnormal type of the oxygen-carrying substance hemoglobin in the red blood cells ... The abnormal FIG-ROS fusion protein has constitutively active kinase activity that causes oncogenic transformation (a ...

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

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- ...

https://en.wikipedia.org/wiki/Potocki–Lupski_syndrome

A standard karyotype can be completed to cytogenetically determine that an individual with a partial or complete male phenotype ... The condition results from an abnormal exchange of genetic material between chromosomes (translocation). This exchange occurs ... XX karyotype. X chromosome, for other conditions related to the X chromosome For a condition that causes people who have XY ... XX karyotype (otherwise associated with females) has phenotypically male characteristics that can vary among cases. Synonyms ...

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

... 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

In humans, centromere positions define the chromosomal karyotype, in which each chromosome has two arms, p (the shorter of the ... A dicentric chromosome is an abnormal chromosome with two centromeres, which can be unstable through cell divisions. It can ... Because of this, organisms with holocentric chromosomes can more rapidly evolve karyotype variation, able to heal fragmented ... December 2015). "Holokinetic centromeres and efficient telomere healing enable rapid karyotype evolution". Chromosoma. 124 (4 ...

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

Speck was erroneously reported to have an extra Y chromosome; in fact, his karyotype was performed twice and was normal each ... and that their violent behavior is a result of abnormal brain activity. Holmes believe that "until a reliable sample can be ... While attempts have been made to link the XYY karyotype to violence, including serial murder, research has consistently found ...

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

These B-cells are abnormal: they are monoclonal, i.e. produced by a single ancestral B-cell, and have some of the same cell ... Monoclonal B-cell lymphocytosis Virtual karyotype B-cell CLL/lymphoma O'Brien S, Gribben JG (2008). Chronic Lymphocytic ... The diagnosis of CLL is based on the demonstration of an abnormal population of B lymphocytes in the blood, bone marrow, or ... with abnormal expression of surface markers CD5 and CD23. These B cells resemble normal lymphocytes under the microscope, ...

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

Skeletal anomalies (including abnormal bone growths) are the usual symptoms of the disorder, although it's phenotypical nature ... 2020) described an 8-year-old girl with Turner syndrome (46, X, idic(X) (p11.2) [55%]/45, XX [45%] karyotype) and ... abnormal results from liver function tests, IcG, decreased levels of CD4+ cells, B cells, and natural killer cells, and the ...

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

The karyotype is that of an ordinary female: 46,XX. With this information, the diagnosis of CAH is readily made and female sex ... Surgical reconstruction of abnormal genitalia has been offered to parents of severely virilized girls with CAH since the first ... 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, ...

https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency

There are a variety of tests that can be carried out, like karyotypes, cardiac echocardiograms, a renal sonogram, a platelet ... 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

April 2007). "Karyotype is an independent prognostic factor in adult acute lymphoblastic leukemia (ALL): analysis of ... The delayed-infection hypothesis states that ALL results from an abnormal immune response to infection in a person with genetic ... Some hypothesize that an abnormal immune response to a common infection may be a trigger. The underlying mechanism involves ...

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

"Karyotyping". National Institute of Health. Retrieved 7 May 2014. Montag, M; van der Ven, K; Rösing, B; van der Ven, H (2009 ... The term sex chromosome aneuploidy summarizes conditions with an abnormal number of sex chromosomes, i.e., other than XX ( ... Karyotyping involves performing an amniocentesis in order to study the cells of an unborn fetus during metaphase 1. Light ... Nondisjunction results in daughter cells with abnormal chromosome numbers (aneuploidy). Calvin Bridges and Thomas Hunt Morgan ...

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

The first published report of a boy with a 48,XXYY karyotype was by Sylfest Muldal and Charles H. Ockey in Manchester, England ... An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. In 48, ... A karyotype is done to diagnose XXYY syndrome. Treatment consists of medications, behavioral therapies, and intensive community ...

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

Genetic analysis including karyotyping may reveal specific abnormalities that may influence prognosis or treatment, such as the ... Nasseri, Farbod; Eftekhari, Farzin (March 2010). "Clinical and Radiologic Review of the Normal and Abnormal Thymus: Pearls and ...

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

Abnormal levels of cyclin D-1 may promote rapid cell division in epithelioid sarcoma. Tissue biopsy is the diagnostic modality ... Molecular cytogenetic characterization by use of spectral karyotyping and comparative genomic hybridization". International ...

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

... 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 ...

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

The abnormalities seen in the great arteries of mice deficient of Tbx1 are a consequence of abnormal formation and remodelling ... assay versus karyotyping for prenatal detection of chromosomal abnormalities: a retrospective consecutive case series". BJOG. ... Abnormal facies Thymic aplasia or hypoplasia Cleft palate Hypocalcemia/hypoparathyroidism early in life Individuals can have ... which is able to detect microdeletions that standard karyotyping (e.g. G-banding) miss. Newer methods of analysis include ...

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

... 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 ... Karyotyping is the process by which a karyotype is prepared from photographs of chromosomes, in order to determine the ... Media related to Karyotypes at Wikimedia Commons Making a karyotype, an online activity from the University of Utah's Genetic ...

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

However, there is a trisomy 9p-related congenital disorder which has only 3 copies of this genetic material due an abnormal ... This sSMC is termed derivative 22, der(22) or der(22)t(11;22); the afflicted individuals' karyotypes (i.e. chromosome tallies) ... A small supernumerary marker chromosome (sSMC) is an abnormal extra chromosome. It contains copies of parts of one or more ... in the parent's abnormal chromosome. This alteration occurs in the parent's egg or sperm as a result of an nondisjunction of ...

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

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

A karyotype should be performed as a part of the routine evaluation after the diagnosis of primary ovarian insufficiency is ... Secondary ovarian insufficiency can result from abnormal function of the GnRH pulse generator, even in the absence of any ... X chromosome monosomy/aneuploidy or mosaicism (as observed in Turner syndrome or some cases with 47,XXX karyotype) ...

http://emedicine.medscape.com/article/271046-overview

Karyotype. Abnormal: Turner syndrome, rare chromosomal disorders. Pregnancy test. Positive: Pregnancy, ectopic pregnancy. ... Additional testing, including karyotyping, serum androgen evaluation, and pelvic or brain imaging, should be individualized. ... Sexual maturity rating abnormal. Turner syndrome, constitutional delay of puberty, rare causes. ... Abnormal: chronic disease (e.g., elevated liver enzymes in functional hypothalamic amenorrhea). ...

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

A total of 53 [‎38.7%]‎ had an abnormal karyotype: trisomy 21 [‎36; 26.3%]‎, trisomy 18 [‎3; 2.2%]‎, trisomy 13 [‎1; 0.7%]‎, ... Karyotyping was done in 137 children suspected of having chromosomal abnormalities such as genetically uncertain syndromes, ...

https://apps.who.int:80/iris/handle/10665/115916/discover?locale-attribute=en&filter_relational_operator_0=equals&filtertype=mesh&filtertype_0=dateIssued&filter_0=[1995+TO+1999]&filter=Genetic+Diseases,+Inborn&filter_relational_operator=authority

Karyotype tests should be repeated to confirm that an abnormal chromosome problem is actually in the body of the person. ... Karyotyping - illustration Karyotyping is a test used to identify chromosome abnormalities as the cause of malformation or ... Karyotyping - illustration Karyotyping is a test used to identify chromosome abnormalities as the cause of malformation or ... Abnormal results may be due to a genetic syndrome or condition, such as:. *Down syndrome. Down syndrome. Down syndrome is a ...

https://www.limamemorial.org/health-library/HIE%20Multimedia/1/003935

Abnormal Karyotype* * Antibodies, Monoclonal, Humanized / administration & dosage * Antineoplastic Combined Chemotherapy ... High efficacy of venetoclax plus obinutuzumab in patients with complex karyotype and chronic lymphocytic leukemia Blood. 2020 ...

https://pubmed.ncbi.nlm.nih.gov/31990291/

Question 108: Was the karyotype abnormal?. Indicate if the karyotype was abnormal at diagnosis. If abnormalities were ... Questions 109 - 114: Specify the karyotype abnormalities For each of the karyotype abnormalities listed in questions 109-113, ... Karyotyping is a technique often used to determine a cells ploidy and proliferative activity while flow cytometry may measure ... Karyotyping is performed by culturing cells (growing cells under controlled conditions) until they reach the dividing phase. ...

https://www.cibmtr.org/manuals/fim/1/en/topic/q233-271-disease-status-immediately-prior-to-preparative-regimen

EEGs came back abnormal. High-resolution karyotypes came back normal. The brother had a history of seizures and psychomotor ...

https://en.wikipedia.org/wiki/Hall-Riggs_syndrome

Abnormal karyotype - approximately 95% of cases result from chromosomal non-disjunction of chromosome 21 (47,XX,+21 or 47,XY,+ ... Prenatal. Trisomy 21 may be diagnosed through direct analysis of fetal chromosomes, by karyotype or DNA microarray, obtained ... Karyotype is needed for counselling and for estimating recurrence risk (risk in future pregnancies). ... If karyotype not available, check clinical signs on which diagnosis was based. ...

https://www.cdc.gov/ncbddd/birthdefects/surveillancemanual/quick-reference-handbook/trisomy-21-down-syndrome.html

https://extranet.who.int/iris/restricted/handle/10665/115916/discover?locale-attribute=zh&filter_relational_operator_0=equals&filtertype=mesh&filtertype_0=dateIssued&filter_0=[1995+TO+1999]&filter=Genetic+Diseases,+Inborn&filter_relational_operator=authority

Couples with recurrent pregnancy loss and abnormal karyotypes had a lower first pregnancy live birth rate than couples with ... normal karyotypes but achieved a noninferior accumulated live birth rate through multiple conception attempts. ... with abnormal karyotypes vs. those with normal karyotypes and among couples with RPL and abnormal karyotypes after receiving ... with abnormal karyotypes vs. those with normal karyotypes and among couples with RPL and abnormal karyotypes after receiving ...

https://www.fertstertdialog.com/posts/systematic-review-of-subsequent-pregnancy-outcomes-in-couples-with-parental-abnormal-chromosomal-karyotypes-and-recurrent-pregnancy-loss

A total of 53 (38.7%) had an abnormal karyotype: trisomy 21 (36; 26.3%), trisomy 18 (3; 2.2%), trisomy 13 (1; 0.7%), partial ... ABSTRACT Karyotyping was done in 137 children suspected of having chromosomal abnormalities such as genetically uncertain ... A total of 53 (38.7%) had an abnormal karyotype: trisomy 21 (36; 26.3%), trisomy 18 (3; 2.2%), trisomy 13 (1; 0.7%), partial ... with suspected chromosomal disorders had an abnormal karyotype (Table 1).. Forty patients had autosomal trisomy; trisomy 21 was ...

http://www.emro.who.int/emhj-volume-3-1997/volume-3-issue-1/article17.html

Abnormal genetic screening results (first- or second-trimester screening). *Chromosomal abnormalities identified by karyotype, ... Ultrasound abnormalities, including abnormal nuchal translucencies (increased nuchal translucencies, cystic hygromas). * ...

https://www.hopkinsmedicine.org/gynecology_obstetrics/specialty_areas/maternal_fetal_medicine/specialty_clinics/fetal-maternal-genetics-clinic.html

Karyotyping is a way of looking at the set of chromosomes a person has. The study can look for abnormal amounts or shapes of ... Karyotyping. A karyotype is a single persons set of chromosomes. ... When a chromosome is abnormal, it can cause health problems in the body. Special tests called chromosome studies can look at ... CMA can find chromosome problems with more detail than karyotyping or FISH. Fluorescent dye is added to a persons DNA sample. ...

https://www.uhhospitals.org/locations/primary-care/uh-rainbow-madison-pediatrics/health-and-wellness-library/diseases-and-conditions/article/pediatric-diseases-and-conditions-v0/medical-genetics-chromosome-studies

An abnormal karyotype is observed in the majority of patients with CLL. The most common abnormality is deletion of 13q, which ...

https://reference.medscape.com/article/199313-overview

2 previous pregnancies with fetuses with known abnormal karyotype. *. Patients with IgA deficiency, IgA-autoantibodies or ... Successful glucocorticoid treatment for patients with abnormal autoimmunity on in vitro fertilization and embryo transfer. J ...

https://bmjopen.bmj.com/content/12/9/e064780?rss=1

Abnormal Karyotype 17% * hemoglobin P 9% * Missense Mutation 6% * Myeloid Cells 6% ...

https://mayoclinic.pure.elsevier.com/en/publications/dnmt3a-mutations-are-associated-with-inferior-overall-and-leukemi/fingerprints/

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/products/htb-122

Karyotype analysis. Sufficient sample material was available to examine the Karyotype. The Philadelphia chromosome (Ph) is a ... Additional chromosome refers to in addition to the Philadelphia chromosome attached to other abnormal chromosomes. ... in addition to the Philadelphia chromosome attached to other abnormal chromosomes), and six of these patients had the T315I ... in addition to the Philadelphia chromosome attached to other abnormal chromosomes. ...

https://www.spandidos-publications.com/10.3892/ol.2020.11650

... had an abnormal karyotype. In contrast, of the 192 fetuses without tricuspid regurgitation, 68 (35%) had karyotype ... This finding frequently appeared to predict an abnormal karyotype, even in the absence of a structural cardiac malformation. ... Objective: To analyse patient data to elucidate the apparent association between an abnormal karyotype and tricuspid ... as its presence increased the likelihood of the karyotype proving to be abnormal in a given case. Chromosomal anomalies were ...

https://heart.bmj.com/content/89/9/1071

abnormal 3q. • t(6;9). • t(9;22). • abn(11q23). • CK. AML = Acute myeloid leukemia; CK = Complex karyotype; ECOG = Eastern ... abnormal 3q. • t(6;9). • t(9;22). • CK. EORTC/GIMEMA AML-10. • t(8:21). • inv16, t(16;16), 16q-. • NN. • -Y. • All other ... abnormal 3q, 9q, 11q, 20q, 21q and 17p. • CK. MRC AML-10. • inv16, t(16;16), 16q-. • t(8;21). • t(15;17). • All other ... Normal karyotype; SWOG = Southwest Oncology Group Reproduced with permission from [46]. ...

https://www.medscape.com/viewarticle/703452_13

Abnormal pre-natal scans or screening tests, e.g. amniocentesis with abnormal karyotype ...

https://bpac.org.nz/BPJ/2012/October/genetic.aspx

Cytogenetic assessments by karyotyping and fluorescence in situ hybridization was performed by a central laboratory on samples ... A positive score for each tested abnormality was assigned based on identifying at least one abnormal cell out of a minimum of ...

https://www.nature.com/articles/s41408-020-00357-4?error=cookies_not_supported&code=048bd2bb-3f87-41ae-a223-185f7d607da9

Conclusions Cytogenetically abnormal MDS was generally not associated with occupational or hobby exposure to known or suspected ... An association was suggested between occupational exposure to EMF and MDS with a normal karyotype. Biases due to differential ... Occupational exposure to extremely low-frequency magnetic fields (EMF) was associated with MDS with a normal karyotype [odds ... Results The investigated exposures were generally not associated with cytogenetically abnormal MDS. Effect estimates for ...

https://www.sjweh.fi/article/744

... with either chromosomally normal or abnormal abortions. In contrast, among public patients the odds of working only during ... the frequencies of work before pregnancy in specific employment circumstances were compared among karyotyped cases and controls ... and 2,126 controls were compared to examine the relation between maternal employment before and during pregnancy and karyotype ... pregnancy or both before and during pregnancy were raised for chromosomally abnormal abortions (adjusted odds ratios = 3.11 and ...

http://www2a.cdc.gov/nioshtic-2/BuildQyr.asp?s1=%27health+care+personnel%27+or+%27health+care+worker%2A%27+or+%27health+care+facilit%2A%27+or+nurse+or+nurses+or+nursing&f1=KW&Startyear=&t1=1&s2=%27health+care%27+or+nurse+or+nurses+or+nursing&B1=Search&terms=3&Adv=1&f2=TI&Limit=500&Sort=DP+DESC&D1=10&EndYear=&PageNo=291&RecNo=2909&View=f&

Karyotype analysis of the patient revealed 46 XY, del (13q22 -32). It is also known as Orbeli syndrome based on the Russian ... Coagulation profile was abnormal. He was given multiple platelets, fresh frozen plasma and packed red blood cell transfusions. ...

https://www.pediatriconcall.com/spot-diagnosis/multiple-congenital-abnormalities/273

In this particular case, the cells in a person with cri-du-chat syndrome contained an abnormal chromosomal complement, which ... This photographic collage depicts the karyotype that would represent the chromosomal configuration known as an autosomal ...

https://phil.cdc.gov/Details.aspx?pid=12505

Karyotyping is a test to examine chromosomes in a sample of cells. (medlineplus.gov)
Trisomy 21 may be diagnosed through direct analysis of fetal chromosomes, by karyotype or DNA microarray, obtained from amniocentesis, chorionic villus sampling, or percutaneous umbilical blood sampling. (cdc.gov)
A karyotype is a single person's set of chromosomes. (uhhospitals.org)
Karyotyping is a way of looking at the set of chromosomes a person has. (uhhospitals.org)
The study can look for abnormal amounts or shapes of chromosomes. (uhhospitals.org)
Karyotyping is the isolation, staining and visual examination of chromosomes to find chromosomal rearrangements. (cmaj.ca)
For karyotyping the chromosomes must be isolated from cells in the metaphase, which is the stage of the cell cycle in which the chromosomes assume their characteristic condensed, discrete shape. (cmaj.ca)
Known causes include abnormal chromosomes, endocrinological disorders and uterine abnormalities. (bmj.com)
Detailed assessment of mitotic mESCs revealed abnormal condensin distribution and perturbed chromosome segregation, accompanied by irregular spindle morphology, lagging chromosomes and DNA bridges. (biologists.com)
The size, shape, and number of chromosomes in your body can be examined by a Karyotyping test. (mfine.co)
A karyotype is a profile or 'picture' of a person's chromosomes. (number1fertility.com)
Karyotyping, also known as chromosome analysis or chromosome studies, examines the size, quantity, and arrangement of our chromosomes. (number1fertility.com)
The test uses microarray analysis to conduct a more comprehensive examination of a fetus's DNA than is possible with the current standard method, karyotyping-a visual analysis of the fetus's chromosomes. (medicalxpress.com)
0.005), where abnormal maternal karyotype was detected in 20% cases, 8.33% of them had insertional translocation between chromosomes 1 and 7 (46, XX, ins. (sid.ir)
Any time there are abnormal numbers of chromosomes, cells are referred to as aneuploid . (cuny.edu)
As a result of karyotype re-analysis, the patient's karyotype showed a balanced CCR involving chromosomes 3, 11, and 21 with three breakpoints 3p26, 11p14, and 21q21. (e-kjgm.org)
Currently, patients presenting with a clinically significant genetic condition, such as Down's syndrome, have their DNA tested by karyotyping, a low resolution technique where a patient's chromosomes are visually checked for large abnormalities through a microscope. (technologynetworks.com)
3) during fertilization, a gamete with an abnormal set of chromosomes (22 autosomes + XX) merges with a normal spermatozoon (22 autosomes + X), as a result, a zygote with such a set of chromosomes is formed: 22 pairs of autosomes + XXX. (bystudin.com)
Both patients one and two have abnormal karyotypes, or a person's complete set of chromosomes, in the form of a Philadelphia Chromosome. (bowdoin.edu)
However, in females with Turner's syndrome, one of these chromosomes is missing or abnormal. (web.app)
Talk of the topic: In the present article we are going to explain the karyotype of the … A karyotype of Turner Syndrome- Explained Read Turner Syndrome occurs when one of the X chromosomes is missing, either partially or completely. (web.app)
1. A karyotype is a technique wherein the chromosomes are stained, photographed and then each chromosome cutout is arranged according to their size and shape. (abroadexport.com)
The chromosomes in the karyotype are arranged in If a karyotype shows a usual number and structure of chromosome set, it is known as a normal karyotype. (abroadexport.com)
In a karyotype preparation, metaphase chromosomes are spread out and stained. (abroadexport.com)
A karyotype is a photograph of all of an organism's chromosomes. (abroadexport.com)
Karyotypes are symmetrical: m and sm chromosomes are common, whereas st chromosomes are rare. (abroadexport.com)
A human karyotype is a whole set of human chromosomes, having all the genetic content or material of a cell. (abroadexport.com)
Karyotype is a technique performed for genetic analysis and is defined as an image of an individual's collection of chromosomes. (abroadexport.com)
Updated 7/28/2020 4:34:58 AM. A karyotype test uses blood or body fluids to analyze your chromosomes. (abroadexport.com)
Discuss changes in the quality of life for the patient, family, and caregivers A karyotype is simply a picture of a person's chromosomes. (abroadexport.com)
Only dividing cells may be used for karyotyping since chromosomes are not visible in nondividing cells. (abroadexport.com)
A karyotype is an individual's complete set of chromosomes. (abroadexport.com)
4] 'Karyotype' also refers to the actual collection of chromosomes being examined. (abroadexport.com)
The ready analysis for karyotype contains such information: The number of chromosomes. (abroadexport.com)
One year previously, she underwent amniocentesis to check the fetal chromosomes because of abnormal ultrasound results, which showed a possible ventricular septal defect, a focal hyperechoic region in the left ventricle, and fetal growth restriction (FGR) of approximately 2 W +1 . (biomedcentral.com)
Traditionally, a woman who undergoes a prenatal invasive diagnostic procedure via amniocentesis (after 16 weeks' gestational age) or chorionic villus sampling (at 11 to 13 weeks' gestational age) receives results in the form of a karyotype-23 pairs of banded chromosomes. (einsteinmed.edu)
By Karyotyping, it is possible to accurately demonstrate the number and structure of chromosomes. (ivfsurrogacy.com)
The stained sample is photographed to provide a karyotype, which shows the arrangement of the chromosomes. (ivfsurrogacy.com)
Abnormal number of chromosomes, the wrong way arranged chromosomes, or malformed chromosomes - these are some of the common signs of genetic situation. (ivfsurrogacy.com)
When you will receive the result of your Karyotyping test in India that means the report is of your baby's chromosomes evaluation, so the outcomes are definite - either the baby is completely normal or the baby has genetic issue. (ivfsurrogacy.com)
The addition of preimplantation genetic testing (PGT) with full embryo karyotyping (which assesses all the embryo's chromosomes), markedly improves the ability to select truly "competent" embryos for transfer. (sherfertilitysolutions.com)
Karyotype analysis allows detecting numerical and structural changes in all chromosomes but it is time consuming and requires great technical expertise. (aneufast.com)
Molecular karyotyping demonstrated DCIS cells to be cytogenetically abnormal (copy number loss or gain in chromosomes including 1, 5, 6, 8, 13, 17) compared to the normal karyotype of the non-neoplastic cells in the patient's breast tissue. (gmu.edu)
The laboratory house mouse has maintained a standard 40-chromosome karyotype - or the full picture of an organism's chromosomes - after more than 100 years of artificial breeding," said co-first author Li Zhikun, researcher in the Chinese Academy of Sciences (CAS) Institute of Zoology and the State Key Laboratory of Stem Cell and Reproductive Biology. (scitechdaily.com)
By fusing two medium-sized chromosomes, researchers produced the first sustainable engineered karyotype for lab mice. (scitechdaily.com)
They tested it by fusing two medium-sized chromosomes - 4 and 5 - head to tail and the two largest chromosomes - 1 and 2 - in two orientations, resulting in karyotypes with three different arrangements. (scitechdaily.com)
however, karyotypes with fused 1 and 2 chromosomes resulted in arrested development," Wang said. (scitechdaily.com)
The karyotypes with chromosome 2 fused to the top of chromosome 1 did not lead to any full-term mouse pups, while the opposite arrangement produced pups that grew into larger, more anxious, and physically slower adults, compared to the mice with fused 4 and 5 chromosomes. (scitechdaily.com)
However, whilst clinics rigorously test all donors, around 30% of eggs retrieved still have the potential to result in aneuploid (abnormal number of chromosomes) embryos. (myivfanswers.com)
Chromosomopathies: chromosomal abnormalities such as aneuploidies (abnormal number of chromosomes), chromosomal translocations (rearrangement of parts between nonhomologous chromosomes), inversions (a segment of a chromosome is reversed end to end) or trisomies . (wordpress.com)
An array of chromosomes and karyotyping are performed to determine whether there are trisomies, microdeletions and duplications. (depressionals.com)
The techniques used in molecular pathology include karyotype imaging of chromosomes, polymerase chain reaction (PCR) to amplify DNA, DNA microarrays (small samples of DNA placed onto biochips), and fluorescence labeling Clinical Pathology deals with the diagnosis of the disease through the laboratory analysis of the fluids and tissues. (safehandsdiagnostics.in)
In a process called karyotyping, the pairs of autosomal chromosomes can be ordered, classified and numbered according to their size and the twenty-third pair are the sex chromosomes (XX for females and XY for males). (hoffie.net)
Second, if the ends of linear chromosomes are not protected they run the risk of triggering a cell's double-strand DNA damage response (DDR) pathway, which in turn would result in abnormal chromosomal end-to-end fusions and genome instability. (bmj.com)
Telomeres maintain genome stability by shielding the terminal coding sequences of chromosomes from degradation during cellular replication, and also by differentiating chromosome ends from abnormal chromosome breakages preventing activation of the DDR pathway. (bmj.com)

Karyotyping was done in 137 children suspected of having chromosomal abnormalities such as genetically uncertain syndromes, multiple congenital anomalies, short stature, dysmorphic features, unclassified mental retardation and Down syndrome. (who.int)
Karyotyping is a test used to identify chromosome abnormalities as the cause of malformation or disease. (limamemorial.org)
The potential of FISH to detect much smaller chromosomal abnormalities than can be detected with karyotyping has already been mentioned. (cmaj.ca)
Karyotyping test is usually recommended for detecting various chromosomal abnormalities in the cells of your body. (mfine.co)
it also identified additional abnormalities undetected by karyotyping. (medicalxpress.com)
Based on our findings, we believe that microarray will and should replace karyotyping as the standard for evaluating chromosomal abnormalities in fetuses," said Dr. Wapner. (medicalxpress.com)
Cancers are defined by abnormal karyotypes, displaying ever-changing structural and numerical abnormalities. (thewinnower.com)
Monosomal Karyotype MK is defined by the presence of at least two separate autosomal monosomies or one monosomy plus one or more structural abnormalities. (abroadexport.com)
The results showed no abnormalities in the karyotypes of the father and older son, and the karyotypes of the mother and fetus were 46,XX,del(4)(q35.1) and 46,XY,del(4)(q35.1), respectively. (biomedcentral.com)
Among patients whose fetuses had ultrasound abnormalities and who were told the karyotypes were normal, 6 percent had abnormal arrays. (einsteinmed.edu)
Other infants at high risk for CHD include those with abnormalities of other systems and those with syndromes related to abnormal karyotypes. (apcardio.com)
Larger abnormalities may be visible with a microscope in a test called chromosome analysis or karyotyping. (msdmanuals.com)
By karyotyping the foetus, these abnormalities can be detected and treatment is advised quite early in the course of pregnancy. (ivfsurrogacy.com)
Karyotyping Test in India is one of the prenatal screenings that scrutinizes certain genetic and chromosomal abnormalities. (ivfsurrogacy.com)
The diagnosis was confirmed by fluorescence in situ hybridization and cytogenetic analyses which revealed the presence of the PML-RARA fusion gene and the typical APL karyotype t (15;17) (q22;q12) with no apparent abnormalities. (rroij.com)
Blood karyotyping is indicated, especially when systemic abnormalities are present. (medscape.com)
A new prenatal test called STORK (Short-read Transpore Rapid Karyotyping) can detect chromosomal abnormalities and deliver the results within two Hours. (xn--covenews-i1a.vn)

Karyotyping is used in prenatal diagnosis (particularly amniocentesis for trisomy 21), investigation of repeat pregnancy loss, investigation of children and adults with features suggestive of a syndrome (dysmorphic features or other associated anomalies, mental retardation, learning disabilities or behavioural anomalies), and subtyping of lymphomas, leukemias and solid tumours 1 , 2 for the purpose of exact diagnosis, treatment stratification and prognosis. (cmaj.ca)
As with karyotyping, microarray requires fetal cells obtained via an invasive procedure such as amniocentesis, where fetal cells are taken from the amniotic fluid, or chorionic villus sampling, where cells are taken from the placenta. (medicalxpress.com)
Amniocentesis confirmed that the baby carried normal karyotype without mosaicism. (e-kjgm.org)
At G19 +1 W of gestation, amniocentesis was performed, and amniocytes were extracted for G-banding karyotype analysis and CMA examination. (biomedcentral.com)
When amniocentesis reveals a mosaic karyotype and the baby presents with multiple malformations, an analysis of the baby's peripheral blood typically reveals a mosaic karyotype. (shengsci.com)
METHODS @#7617 singleton pregnant women who underwent amniocentesis for prenatal diagnosis solely due to abnormal Down's serological screening were selected. (bvsalud.org)

In cases sampled for advanced maternal age or positive screening results, microarray analysis picked up an abnormality in one out of every 60 pregnancies (1.7%) that had a normal karyotype. (medicalxpress.com)
The primary benefit of using microarray analysis rather than karyotype analysis is the greater likelihood of obtaining results," said Uma Reddy, MD, MPH of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) of the National Institutes of Health, first author of the paper. (medicalxpress.com)
In this report, 3 members of a family carried 4.5-Mb deletion fragments at the 4q35.1q35.2 subtelomeric region were assessed by karyotype analysis and chromosomal microarray analysis (CMA), and the possible genotypic-phenotypic correlation with the 4q terminal deletion was discussed. (biomedcentral.com)
Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil. (cdc.gov)

De novo mosaic add(3) characterized to be trisomy 14q31-qter using spectral karyotyping and subtelomeric probes. (wikigenes.org)
Down syndrome (DS), a major cause of mental retardation, is caused by trisomy of some or all of human chromosome 21 and includes three basic karyotypes: trisomy 21, translocation, and mosaicism. (biomedcentral.com)
In the current study, iPSCs were generated from DS patients with different karyotypes (trisomy 21 and translocation) via the overexpression of four factors: OCT4, SOX2, KLF4, and c-MYC. (biomedcentral.com)
What Abnormal Results Mean More fluid than normal in the back of the neck means there is a higher risk for Down syndrome, trisomy 18, trisomy 13, Turner syndrome, or congenital heart disease. (fejezd-berearte.com)
Conceptual image of a cell karyotype exhibiting trisomy, three copies of one chromosome. (nih.gov)
In the Australian cohort, 71 (0.42 percent) samples were deemed abnormal, 60 of which contained a rare trisomy. (nih.gov)
Interphase FISH performed on abdominal wall muscle tissue revealed a mosaic trisomy 9 karyotype: 47,XY, + 9(159)/46,XY (19). (shengsci.com)
We conclude that it is important to be aware of the possibility that the patient can have a normal postnatal blood karyotype and an abnormal phenotype with multiple malformations when trisomy 9 mosaicism is detected prenatally. (shengsci.com)

There was reliable documentation of the pulsed Doppler flow profile in the tricuspid valve and a known karyotype in 262 fetuses seen between April 2000 and December 2001. (bmj.com)
The indication for echocardiography in these fetuses was increased nuchal translucency in 227, suspected cardiac or extracardiac abnormality in 15, a family history of CHD in four, risk factor in a co-twin in five, abnormal flow in the ductus venosus in nine, and others in two. (bmj.com)
Among fetuses in which a growth or structural anomaly had already been detected with ultrasound, microarray found clinically relevant chromosomal deletions or duplications in one out of 17 cases (6%) that were not observed with karyotyping. (medicalxpress.com)
Of particular note were patterns of gene expression suggestive of abnormal brain development in fetuses of obese women. (engineeringevil.com)
Drs. Bianchi and Edlow, say the next step in their research will be to use a mouse model to examine the genes that are differentially expressed in fetuses of obese women, genes that may be involved in abnormal fetal neurodevelopment. (engineeringevil.com)
In fetuses with P/LP CNV CNV, 59 fetuses were terminated pregnancy , and 32 of 112 fetuses born had abnormal clinical manifestations. (bvsalud.org)
Non-medically necessary termination of pregnancy occurred in 11 fetuses carrying VUS CNV, 322 fetuses carrying VUS CNV were born, 4 of them presented abnormal clinical manifestations. (bvsalud.org)

Clinical diagnosis should be confirmed by genetic testing (typically, karyotype from infant's blood or tissue). (cdc.gov)
If karyotype not available, check clinical signs on which diagnosis was based. (cdc.gov)
While it is reassuring that 75 percent of the stem cell lines studied remained normal after prolonged growth in the laboratory, detecting and eliminating abnormal cells is an absolute prerequisite for clinical use of stem cell products," he adds. (futurity.org)
In a second paper published in the same issue of NEJM , about the use of microarray in stillbirth, results showed that microarray produced a clinical relevant result in 87% of 532 cases, which were analyzed with both karyotyping and microarray. (medicalxpress.com)
Here we report a 62-year-old man with typical morphology and clinical features of APL with a complex karyotype including add(11)(p15) and t(13,20)(q12;q11.2) without typical t(15;17) assayed by the G-banding analysis. (bjbms.org)
Here, we report a patient with typical morphology and clinical features of APL with a complex karyotype including add(11)(p15) and t(13;20)(q12;q11.2) but masked t(15;17) based on the conventional chromosome (CC) analysis. (bjbms.org)
The purpose of this study was to assess the correlation between clinical presentation and karyotype variations of X chromosome in TS. (jimc.ir)
Among three karyotype groups, clinical symptoms and phenotypes were not significantly different. (jimc.ir)
Conclusion: The study found no correlation between the clinical presentation and karyotype variations of TS. (jimc.ir)
A clinical geneticist may then make a diagnosis immediately or, where the resolution of karyotyping is insufficient, additionally order a small number of higher resolution FISH (fluorescent insitu hybridization) tests to "probe" whether specific parts of the patient's genomic sequence are abnormal. (technologynetworks.com)
Therefore, genomic integrity of stem cells should be monitored carefully for the use in basic research and clinical trials, including karyotype analysis to confirm the absence of genetic instability. (biomedcentral.com)
The examination of the ovaries and the uterus did not reveal any abnormal clinical findings and the mare showed a regular oestrous cycle. (gstsvs.ch)
We found that pregnancies at greatest risk of serious complications were those with very high levels of abnormal cells in the placenta," said Mark D. Pertile, Ph.D., co-first author of the study and head of the division of reproductive genetics at Victorian Clinical Genetics Services, part of Murdoch Childrens Research Institute in Melbourne, Australia. (nih.gov)
When the baby's phenotype is abnormal, karyotyping on multiple tissues is useful for confirming clinical impression as well as determining the prognosis and providing accurate genetic counseling. (shengsci.com)
Taken together, the patient's clinical presentation along with the presence of an abnormal gamma-delta population of T cells in a sinusoidal distribution with PCR evidence of T-cell clonality is diagnostic of a T-cell lymphoma. (labmedicineblog.com)
While intended only for research use, Snudden made it clear that the Focus-format arrays could be used together with contemporary cytogenetics techniques, such as G-band karyotyping and fluorescent in situ hybridization, in a clinical setting. (genomeweb.com)

A karyotype analysis was performed on the amniotic fluid cells of a woman at 24 weeks of pregnancy and peripheral blood lymphocytes from both parents and their older son with the conventional G-banding technique. (biomedcentral.com)
Karyotyping test in India can be performed on a sample of blood, bone marrow, amniotic fluid, or tissue from the placenta, the organ that develops during pregnancy to feed a growing baby. (ivfsurrogacy.com)
CMA and CNV-Seq were used to detect the copy number variation of amniotic fluid cell genomic DNA and combined with amniotic fluid cell karyotype analysis for prenatal diagnosis . (bvsalud.org)

Other cytogenetic studies among selected populations with abnormal phenotype features have also been conducted [5,6]. (who.int)
We report on a case of complex chromosomal rearrangement in a patient with an abnormal phenotype and neurodevelopmental delay. (geneticsmr.com)
Because of the discrepancy between the phenotype and karyotype, we repeated the chromosomal studies on multiple occasions. (shengsci.com)
Androgenic resistance syndromes: there is testicular feminization, it means the karyotype is masculine (46, XY), but the phenotype is feminine. (wordpress.com)

In contrast, among public patients the odds of working only during pregnancy or both before and during pregnancy were raised for chromosomally abnormal abortions (adjusted odds ratios = 3.11 and 1.86, respectively) and slightly raised for chromosomally normal abortions (adjusted odds ratios = 1.35 and 1.31, respectively). (cdc.gov)
About 30% - 50% oocytes and 10% sperms are chromosomally abnormal. (scirp.org)
Conversely, embryos that fail to develop into expanded blastocysts within 5-6 days of being fertilized, are almost invariably chromosomally abnormal (aneuploid), "incompetent" and are unworthy of transfer. (sherfertilitysolutions.com)

This photographic collage depicts the karyotype that would represent the chromosomal configuration known as an autosomal deletion syndrome, which has been given the name, cri-du-chat. (cdc.gov)
In this particular case, the cells in a person with cri-du-chat syndrome contained an abnormal chromosomal complement, which involved the deletion of some of the chromosomal material from the short arms of chromosome 5 (5p-), as indicated by the arrow. (cdc.gov)
Before a baby is born, karyotype testing can be performed to detect genetic defects that could indicate major birth defects, such as Klinefelter syndrome, where a boy is born with an extra X chromosome. (mfine.co)
Such counselors are qualified to explain what your karyotype test findings indicate, such as your risk of having a child with a genetic disease like Down's syndrome. (mfine.co)
Turner Syndrome (TS) is caused by the complete or partial absence of the second X chromosome (monosomy) in some or all cells or presence of structurally abnormal X chromosome. (jimc.ir)
7. Turner syndrom innebär en komplex av MG till startsidan Sök - Syndromet beskrevs från början under namn som female pseudo-Turner syndrome och male Turner syndrome. (web.app)
The karyotype of Turner syndrome shows something very different that is not observed in the normal karyotype. (web.app)
A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X Turner Syndrome (TS) is associated with osteopenia and osteoporosis. (web.app)
Abnormality or any issue detected by the karyotype test could be the result of any chromosomal disorder or genetic syndrome. (ivfsurrogacy.com)
In a bid to demystify the pathology of Down syndrome, scientists designed studies aimed at identifying the exact genes on chromosome 21, which have an abnormal copy number and how their overexpression causes cellular and physiological alterations. (nursingbird.com)
An increase in scientific knowledge and improvement of karyotyping techniques over the years finally led geneticists to discover and elucidate various types of Down syndrome. (nursingbird.com)

an ultrasound at that time showed a fetus with abnormal clefts in the cerebral hemispheres of the brain (schizencephaly), with cleft walls separated and filled with cerebrospinal fluid (open lip). (cdc.gov)

Several genetic diagnostic procedures such as parental karyotyping and preimplantation genetic screening should probably not be used routinely. (bmj.com)
However, most of CCR carriers are not aware of their condition until genetic analysis of either abortus or affected baby or parental karyotyping is performed. (e-kjgm.org)
Parental karyotype indicated that the father carried an apparently balanced insertion: 46, ΧΥ, der(10)ins(10;8)(q22;q23q24). (herts.ac.uk)
Τimely diagnosis of parental balanced chromosomal rearrangements can reduce the risk of subsequent miscarriages as well as abnormal offspring. (herts.ac.uk)
this makes rapid prenatal diagnosis available to all pregnancies either as tool to reduce parental anxiety while waiting for completion of fetal Karyotype or to improve pregnancy management in case of abnormal result. (aneufast.com)
However, to date, the meiotic properties of allopolyploids with dysploid parental karyotypes have not been studied in detail. (biomedcentral.com)
The results of this study thus offer an excellent opportunity to explore the meiotic properties of allopolyploids with dysploid parental karyotypes. (biomedcentral.com)
This study helps to elucidate the meiotic properties and evolution of nascent allopolyploids with the dysploid parental karyotypes. (biomedcentral.com)
However, less attention has been devoted to synthetic allopolyploids with dysploid parental karyotypes. (biomedcentral.com)

Three cells were karyotyped. (who.int)
It allows the surveillance of more cells and requires a much smaller sample than karyotyping - even down to a single cell. (cmaj.ca)
Taking a sample of your cells is the initial step in karyotyping. (mfine.co)
Microarray was significantly more successful at returning clinically relevant information because, unlike karyotyping, it does not require cultured cells. (medicalxpress.com)
Such plasticity of the karyotype underlies the evolution of cancer cells (Navin et al. (thewinnower.com)
The cells form colonies in soft agar and have an abnormal karyotype. (cls.shop)
At the Center for Cell Technology (CTC-PUCPR), we regularly perform cytogenetic analyses (G-band karyotyping) for quality control of the cells. (biomedcentral.com)
Santaguida S, Richardson A, Iyer DR, M'Saad O, Zasadil L, Knouse KA, Wong YL, Rhind N, Desai A, Amon A. Chromosome Mis-segregation Generates Cell-Cycle-Arrested Cells with Complex Karyotypes that Are Eliminated by the Immune System. (umassmed.edu)
The mosaic karyotype of the mare consisted of 63,X (20%) and 64,XX (80%) cells. (gstsvs.ch)
To assess the prognosis of the disease, an international assessment system taking into account a karyotype, the number of blast cells, and the degree of deficiency of different blood cell types is used. (actanaturae.ru)
In direct contradiction to this previous assumption, herein we demonstrate, for the first time, the pre-existence of genetically abnormal, tumorigenic carcinoma progenitor cells within human breast DCIS lesions. (gmu.edu)
To demonstrate the dependence of the cytogenetically abnormal DCIS cells on autophagy as a survival mechanism, primary human DCIS cell cultures were treated with chloroquine phosphate, a lysosomotropic inhibitor of autophagy. (gmu.edu)
Chloroquine treatment completely suppressed the generation of DCIS spheroids/3-D structures, suppressed ex vivo invasion of autologous stroma, induced apoptosis, suppressed autophagy associated proteins including Atg5, AKT/PI3 Kinase, and mTOR, eliminated cytogenetically abnormal spheroid forming cells from the organ culture, and abrogated xenograft tumor formation. (gmu.edu)
With karyotypes, cells are taken from blood lymphocytes, and a stimulant is given which makes the cells grow for two days, then additives are given to stop cell growth during metaphase, one of four stages of cell division. (trisomy.org)
Conditions such as thrombophilia (an abnormal tendency to develop blood clots) and / or Natural Killer Cells may affect the recipient. (myivfanswers.com)
For each FISH probe, a minimum of 200 interphase cells are analyzed for abnormal signal patterns. (creative-bioarray.com)
Areas of study include necrosis (death of living cells or tissues), cellular adaptation to injury, neoplasia (abnormal new growth of cells), inflammation, wound healing. (safehandsdiagnostics.in)
Bone marrow biopsy showed complete replacement of marrow spaces by sheets of large lymphoid cells with prominent nucleoli with many mitotic figures consistent with infiltration by high Non Hodgkin 's lymphoma (Figure-3).Karyotyping Analysis revealed complex karyotype with t(14;18)(q32;q21), add(13q), -8, -17 (Figure-4)suggestive of follicular cell origin with a possible transformation of follicular into large B cell lymphoma with a leukemic spill over. (hematology.org)
chromosomal breakpoints occur 25 Kb upstream RBTN2 gene, in a presumed transcriptional start site, inducing truncation of the promoter/control region and leading to inappropriate Lmo2 level especially in T-cells (abnormal T-cell differentiation). (atlasgeneticsoncology.org)

Couples with recurrent pregnancy loss and abnormal karyotypes had a lower first pregnancy live birth rate than couples with normal karyotypes but achieved a noninferior accumulated live birth rate through multiple conception attempts. (fertstertdialog.com)
To evaluate the current evidence of pregnancy outcomes among couples with recurrent pregnancy loss (RPL) with abnormal karyotypes vs. those with normal karyotypes and among couples with RPL and abnormal karyotypes after receiving expectant management vs. preimplantation genetic diagnosis (PGD). (fertstertdialog.com)
The pregnancy outcomes in couples with RPL with abnormal and normal karyotypes across included studies were evaluated. (fertstertdialog.com)
The employment histories of 1,252 women experiencing a spontaneous abortion and 2,126 controls were compared to examine the relation between maternal employment before and during pregnancy and karyotype of the spontaneously aborted conceptus. (cdc.gov)
Among private patients, there was no evidence of a positive association of work only before pregnancy, only during pregnancy, or both before and during pregnancy (v no work) with either chromosomally normal or abnormal abortions. (cdc.gov)
Among worker s, the frequencies of work before pregnancy in specific employment circumstances were compared among karyotyped cases and controls. (cdc.gov)
Karyotype analysis can identify chromosome changes which increase an individual or couple's reproductive risk i.e. increase the chance of conceiving a pregnancy with genetic health conditions. (number1fertility.com)
This results in high rate (50% - 60%) of abnormal conception as well as pregnancy wastage, either before, during or after implantation. (scirp.org)
The specialist will let the woman know which karyotype test will be suitable for her on the basis of how long she is the pregnancy days and on her risks. (ivfsurrogacy.com)
CVS results (11 weeks into the pregnancy): normal karyotype. (milosjourney.com)

Almost all of the cell cultures show mosaicism with many cultures showing more than half of the cell population with abnormal karyotypes. (coriell.org)
Fibroblast karyotyping (sampling the dark and light skin) can reveal mosaicism but is not mandatory for diagnosis. (medscape.com)

Tricuspid regurgitation was present in 70 (27%) of these, of whom 58 (83%) proved to have karyotype anomalies. (bmj.com)
CCR carriers are generally phenotypically normal but related to higher risk of recurrent miscarriage and having abnormal offspring with congenital anomalies. (e-kjgm.org)
Structural chromosomal anomalies, once too small to be 'seen' using conventional karyotyping, can now be detected using molecular techniques. (obgproject.com)
A karyotype test: A karyotype test is one kind of genetic testing method employed to detect various chromosomal anomalies. (abroadexport.com)
Autopsy of the fetus revealed no significant pathology outside the brain, no congenital anomalies and a normal karyotype. (studyslide.com)
Gonadal dysgenesis: disorder of sexual development associated with anomalies in gonadal development, however having a male karyotype (46, XY), the external and internal genitalia are female. (wordpress.com)

In women who conceive through intrauterine insemination or IVF, "an abnormal karyotype embryo/fetus is the cause of miscarriage in more than two-thirds of cases," Mark P. Trolice, MD, director of the IVF Center and professor of obstetrics and gynecology at the University of Central Florida, Orlando, said in an interview. (josephrosadomd.com)

We describe a mother and 1 daughter with the same mosaic karyotype, and another daughter with 45, X. KZ, 12 years old and recently moved from Poland, was investigated for short stature (Ht SDS -2.1), her mother was 142.9 cm, father 176.1cm. (eurospe.org)

In the present study, fibroblasts from patients with DS of various karyotypes were reprogrammed into iPSCs via the overexpression of four factors: OCT4, SOX2, KLF4, and c-MYC, by using lentiviral vectors. (biomedcentral.com)

Given the significant advances in the understanding of molecular causes of abnormal sexual development, it became necessary to integrate current knowledge with the classification of intersex disorders. (hormones.gr)

Increasingly, this technique has moved from the research laboratory into routine use, particularly when specimens are in limited quantity (such as those for prenatal diagnosis) or give poor-quality results (tumours) or negative results (microdeletion syndromes) on karyotyping. (cmaj.ca)
[email protected]#To analyze the genomic variation characteristics of fetal with abnormal serological screening , and to further explore the value of copy number variation (CNV) detection technology in prenatal diagnosis of fetal with abnormal serological screening . (bvsalud.org)

As such, karyotyping is a requirement for all patients, partners, and donors at No1 Fertility. (number1fertility.com)
Microdeletion of chromosome sub-band 2q37.3 in two patients with abnormal situs viscerum. (wikigenes.org)
The study cohort consisted of all patients with an abnormal karyotype randomized in the EORTC/GIMEMA AML-10 and AML-12 trials. (springernature.com)
Among 1291 patients with an abnormal karyotype, 1026 had no subclones, 226 at least 1 subclone, and 39 a CP. (springernature.com)
We have compared this group with 1346 patients with primary MDS and abnormal karyotype without chr17 involved. (udl.cat)
It has recently been reported that monosomal karyotype (MK) worsens the prognosis of patients with CK. (abroadexport.com)
Abnormal phenotypes in patients with ring chromosome X can be ascribed to failed or partial X inactivation due to loss of XIST on Xq13. (eurospe.org)
Three patients with X-chromosome rearrangements had no escape genes with abnormal methylation of the promoter region. (biomedcentral.com)
One of four patients with the most complicated rearrangements exhibited abnormal methylation in three escape genes. (biomedcentral.com)
According to the results of serological screening , the patients were divided into high risk group, borderline risk group and single abnormal multiple of median (MOM) group. (bvsalud.org)
It's a good idea to do a targeted MRI brain scan in selected patients, especially those with abnormal physical signs such as macrocephaly, microcephaly, a change in head circumference, neurological symptoms, or epilepsy. (depressionals.com)
Several studies have found that decitabine is especially beneficial Rabbit polyclonal to Hsp90 in AML patients with complex karyotypes [11]. (cisneroslegacy.net)

Conventional karyotyping revealed a t(5;12)(q31;p13). (houstonmethodist.org)
Conventional cytogenetic studies (karyotyping or FISH) are expensive and need a long period of time in order to obtain results. (devyser.com)
The conventional karyotyping of a child showed an apparently balanced three-way translocation t(4;7;5)(q31;p21;q31)dn. (geneticsmr.com)

Chemotherapy may cause chromosome breaks that affect normal karyotyping results. (medlineplus.gov)
If karyotype available, report results. (cdc.gov)
Results The investigated exposures were generally not associated with cytogenetically abnormal MDS. (sjweh.fi)
The results of the karyotyping test can have a big impact on your life. (mfine.co)
How long do karyotype test results take? (number1fertility.com)
Karyotype results typically take between 8-10 weeks to be reported from the lab. (number1fertility.com)
In best practice, karyotype results are reported prior to beginning IVF treatment. (number1fertility.com)
If you have had the opportunity to understand the implications of an 'abnormal' karyotype finding and wish to commence treatment prior to receiving your results, we will support you to do so. (number1fertility.com)
The study confirms the intermediate prognostic impact of the i(17q), as stated in IPSS-R. The results of the study, however, provide valuable new information on the prognostic impact of alterations of chromosome 17 in complex karyotypes. (udl.cat)
15 weeks ended up being an infection that was undiagnosed - we got the full test results with a list of what they tested but OB said there was nothing abnormal. (whattoexpect.com)
We also did the genetic karyotyping for my partner and I that takes 6 weeks for results. (whattoexpect.com)

Researchers believe the deletion affects an area containing a gene that prevents abnormal cell division and proliferation. (hoffie.net)
The deletion of tumor suppressor genes in this way can lead to abnormal cell growth and cancer. (hoffie.net)

Couples with RPL and abnormal karyotypes had a higher miscarriage rate than couples with normal karyotypes but achieved a noninferior accumulated LBR through multiple conception attempts. (fertstertdialog.com)
In couples with RPL and abnormal karyotypes, PGD treatment did not increase the accumulated LBR but markedly reduced miscarriage rate compared with expectant management. (fertstertdialog.com)

A karyotype should be performed as a part of the routine evaluation after the diagnosis of primary ovarian insufficiency is established. (medscape.com)
Karyotype analysis proved the diagnosis. (pediatriconcall.com)
The bone marrow (BM) was hypercellular and packed with 95.2% abnormal promyelocytes that were strongly positive for myeloperoxidase, leading to the morphological diagnosis of APL ( Figure 1 ). (bjbms.org)
In four cases of the group in which the fetal karyotype was checked (14 cases), the pathology observed at the first diagnosis was confirmed, while in the remaining ten cases the anomaly was not observed. (elsevier.com)
Hint: Correct identification of the abnormal brain region may provide a clue for the diagnosis. (studyslide.com)
Therefore, APL was suspected, a peripheral blood smear revealed abnormal hypergranular promyelocytes with Auer rods, and the diagnosis was confirmed by fluorescence in situ hybridization and cytogenetic analyses. (rroij.com)
CMA and CNV-seq can be used for first tier diagnosis of pregnant women in the general population with abnormal Down's serological screening . (bvsalud.org)

Conclusions Cytogenetically abnormal MDS was generally not associated with occupational or hobby exposure to known or suspected genotoxic agents. (sjweh.fi)

As some chromosome changes are associated with health conditions and fertility challenges, a karyotype can be a useful way of finding out if an individual has a normal quantity and arrangement of chromosome material. (number1fertility.com)
At No1 Fertility, a karyotype analysis is part of your initial work up as a patient. (number1fertility.com)

We question whether, in men with an abnormal rate of sperm DNA fragmentation, the magnetic-activated cell sorting (MACS) could select spermatozoa with lower rates of DNA fragmentation as well as spermatozoa with unbalanced chromosome content. (ajandrology.com)
MACS may help to select spermatozoa with lower rates of DNA fragmentation and unbalanced chromosome content in men with abnormal rates of sperm DNA fragmentation. (ajandrology.com)
kamagra europe abnormal sperm came bladder for latex, Australia for rash by the analysis, is may low and middle regarding using and confuses studies levitra 400 mg dosage of vardenafil a levitra 400 mg from. (allegroclinics.com)
Male infertility can be caused by low sperm production, abnormal sperm function or blockages that prevent the delivery of sperm. (genomemedical.com)

Karyotype analysis of the patient revealed 46 XY, del (13q22 -32). (pediatriconcall.com)
The fibroblast cell cultures were tested for in vitro population doubling capacity via lifespan analysis as well as by G-band karyotype analysis. (coriell.org)
Karyotype analysis requires a blood test and is bulk billed to Medicare. (number1fertility.com)
Cytogenetic analysis on a bone marrow sample showed a normal karyotype: 46,XY[20]. (biomedcentral.com)
Cytogenetic analysis of the cell line revealed a single abnormal clone with the karyotype 46,XY,t(7;10)(q32-34;q24),t(9;12) (p22;p12-13). (ashpublications.org)

The genomes of both tumors were examined by whole-exome sequencing (WES) complemented with spectral karyotyping (SKY) and SNP-array copy-number analyses. (biomedcentral.com)

Mutations of the TP53 gene in acute myeloid leukemia are strongly associated with a complex aberrant karyotype. (creative-bioarray.com)

When the gene is absent or at least when no thyroglobulin is synthesized, the disorder is likely to be recessive, whereas the presence of an abnormal subunit leads to a dominantly inherited disorder. (inrae.fr)

In contrast, standard methods for analyzing a stillbirth, which include karyotyping, have been shown in previous research to fail to return information in 25% of cases. (medicalxpress.com)

Compelling evidence that an abnormal oocyte is responsible for the pathophysiology of recurrent HM is provided from observations that in vitro fertilization (IVF) cycles using donated oocytes for women with NLRP7 mutations result in normal offspring [ 6 ]. (ecerm.org)

Conclusion: Based on our data and the literature we recommend: 1) Taking a testicular biopsy at surgery for cryptorchidism in childhood in intra-abdominally placed testes, or if the patient has abnormal external genitalia or a known abnormal karyotype. (turkishjournalpediatrics.org)

This finding frequently appeared to predict an abnormal karyotype, even in the absence of a structural cardiac malformation. (bmj.com)

MicroRNAs are short non-coding RNAs that are important regulators of normal hematopoiesis, and abnormal changes in their expression levels can contribute to hematological tumor development. (actanaturae.ru)

If your karyotype report identifies a chromosome rearrangement or an abnormality, one of our doctors or genetic counsellors will call you to arrange a consultation to help you understand your result and discuss any genetic testing options available to you. (number1fertility.com)
Abnormal karyotypes were classified as no subclones present (cytogenetic abnormality in a single clone), defined subclones present (presence of one to three subclones), and composite karyotypes (CP) (clonal heterogeneity not allowing enumeration of individual subclones). (springernature.com)

The clustering was driven by the presence of chromosomal lesions (e.g., t(8;21), t(15;17), and inv(16)), particular genetic mutations (CEBPA), and abnormal oncogene expression (EVI1). (eur.nl)

Book a Karyotyping test to check for any chromosomal disorder! (mfine.co)

Advised correlation with karyotyping studies. (hematology.org)

Cytogenetics revealed a normal female karyotype. (labmedicineblog.com)

Among the small number of iPS cell lines studied, three out of 11 had abnormal karyotypes (chromosome numbers). (futurity.org)
Cell culture may selectively yield normal karyotypes or selected abnormal karyotypes that survive in-vitro cell proliferation. (devyser.com)