AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesDisciplines and OccupationsAnthropology, Education, Sociology and Social Phenomena
Sex Chromosome AberrationsSex ChromosomesChromosome AberrationsChromosomesChromosome MappingX ChromosomeKaryotypingIn Situ Hybridization, FluorescenceChromosome BandingY ChromosomeSister Chromatid ExchangeChromosomes, HumanAneuploidyChromosome DisordersSex Chromosome DisordersChromosome PaintingChromosomes, Human, XChromosomes, Human, Pair 1Micronucleus TestsChromosomes, Human, YSex Determination ProcessesMutagenicity TestsChromosomes, Human, Pair 11Chromosome PairingCytogeneticsChromosomes, Human, Pair 7Chromosomes, PlantCytogenetic AnalysisTranslocation, GeneticSileneChromosome DeletionChromosomes, Human, Pair 13MutagensX Chromosome InactivationChromosome SegregationNuclear WarfareCorneal Wavefront AberrationGenes, Y-LinkedChromosomes, Human, Pair 18AmericiumLymphocytesMosaicismChromosomes, Artificial, BacterialChromosomes, Human, Pair 21Genes, X-LinkedChromosomes, Human, Pair 17MetaphaseChromosome BreakageChromosomes, Bacterial
AbnormalitiesGeneticAneuploidyCytogeneticsMeiosisLoss of a sex chromosomeAneuploidiesDeletionsHumansAutosomesHomologousKaryotypeSomaticNumericalAbnormalityStructuralComplete set of chromosomesGeneticsPolymorphismDeletionTranslocationChromatidsSets of chromosomesProbesTurner'sCommon chromosomalCytogenetic aberrationsAutosomal chromosomesPresence of the Y chromosomeCentromereSalivary glandMitosisHumanInfertilityDown'sMosaicDeoxyribonucleic acidWhole chromosomeDifferent chromosomeDeterminationPolyploidTrisomy 13CellsSyndromePhenotypeRecessiveMOSAICISMPairsSpeciesVitroMalesDrosophilaHypogonadismBehaviorBreakage
Abnormalities14
  • Karyotyping is the process by which a karyotype is discerned by determining the chromosome complement of an individual, including the number of chromosomes and any abnormalities. (wikipedia.org)
  • The addition of more than one extra X or Y chromosome to a normal male karyotype results in variable cognitive and physical abnormalities. (medscape.com)
  • Secondary chromosome abnormalities were found in 62% of the cases, most often loss of a sex chromosome. (lu.se)
  • Trisomy of sex chromosomes is compatible with life, but will cause phenotypic abnormalities. (mindmeister.com)
  • The genetic controversy about LSD started in 1967 when Cohen, Marinello and Back (22) published a paper suggesting that LSD should be added to the list of substances capable of causing abnormalities in the chromosomes. (druglibrary.net)
  • Well-known examples are some chromosomal translocations or sex-chromosomal abnormalities and Y-chromosome deletions. (virascience.com)
  • Of those, 116 (13.2%) had sex chromosome abnormalities and 20(2.3%) had autosomal chromosome abnormalities. (ijfs.ir)
  • Chromosomal abnormalities are changes to the number or structure of chromosomes that can lead to birth defects or other health disorders. (solarpoultry.com)
  • Other evidence of chromosomal abnormalities include abnormal sexual development, behavioral disturbances, malignancy (e.g., the Philadelphia chromosome in chronic myelocytic leukemia), and spontaneous abortion. (solarpoultry.com)
  • Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: a cohort study. (ox.ac.uk)
  • Mortality and cancer incidence were assessed in a cohort of 1373 patients with numerical sex chromosome abnormalities diagnosed at three cytogenetics centres in Britain during 1959-90, and were compared with expectations from national rates. (ox.ac.uk)
  • Knowledge on the prevalence of sex chromosome abnormalities (SCAs) is limited, and delayed diagnosis or non-diagnosis of SCAs are a continuous concern. (biomedcentral.com)
  • It has been shown that germ cells with an extra Y chromosome from men with the 47 XYY karyotype have abnormal meiotic pairing suggesting disrupted meiosis eventual sperm apoptosis and subsequent oligozoospermia and infertility [15 16 Structural chromosomal abnormalities (SCAs) include deletions duplications translocations (balanced imbalanced and Robertsonian) and inversions. (biobender.com)
  • Compared to autosomes and the X chromosome, relatively few numerical or structural cytogenetic abnormalities have been reported for ECAY. (veteriankey.com)
Genetic20
  • Nonetheless, phenotype-genotype correlations suggest that two or more genetic elements in interval 1A may contribute to the sex-determining function of the Y chromosome. (nih.gov)
  • These differences could have resulted from successive unequal translocations which removed all the essential genetic material from a chromosome, permitting its loss without penalty to the organism (the dislocation hypothesis) or through fusion. (wikipedia.org)
  • A number of scientific papers have been published indicating that LSD might cause structural changes in the chromosomes, genetic mutations, disturbances of embryonic development, and malignant degeneration of cells. (druglibrary.net)
  • Second, contribution of genetic aberrations to the clinical outcome was assessed and an aberration-specific score was assigned to each prognostically relevant alteration. (bvsalud.org)
  • Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. (bvsalud.org)
  • Genetic analysis has pinpointed 3 regions of Yq chromosome that are microdeletion hotspots. (cloudhealthlabs.com)
  • Variability of phenotype depends on the percentage of monosomic cells in different tissues and on the genetic material deleted during the formation of ring Y chromosome. (juniperpublishers.com)
  • Inversions: A portion of the chromosome has broken off, turned upside down, and reattached, therefore the genetic material is inverted. (solarpoultry.com)
  • Genetic Disorders refer to any abnormality in the individual gene(s) or the chromosomes which are caused due to the change in the sequence of the DNA or gain or loss of gene(s) or chromosomes. (solarpoultry.com)
  • Some stocks appear to be heterogeneous, but the observations establish that the major causes of the variable sex ratio are genetic. (caltech.edu)
  • Genetic studies showed several years ago that the third chromosomes of wild strains of Drosophila pseudoobscura often carry suppressors of crossing-over. (caltech.edu)
  • Morgan, Sturtevant, Bridges and Muller constructed the first genetic linkage maps from recombination studies in crosses made in the fruit fly and from cytological preparations of its polytene salivary gland chromosomes [ 4 - 6 ]. (biomedcentral.com)
  • In 1944 it was realized that genetic transformation in bacteria was due to DNA and not protein and that DNA was the molecule responsible for heredity in genes and chromosomes [ 8 ]. (biomedcentral.com)
  • Since the genetic code was deciphered much has been learnt about the chromosome structure shared by all organisms from yeast to human. (biomedcentral.com)
  • AVL-292 All genetic defects AVL-292 can be divided into the following categories: chromosome aberrations DNA copy number variants (micro deletions and duplications) single-gene disorders complex conditions and epigenetic disorders. (biobender.com)
  • OBJECTIVE@#To explore the genetic basis of three children with disorders of sex development (DSD) in association with rare Y chromosome rearrangements. (bvsalud.org)
  • CONCLUSION@#Combined use of genetic techniques can delineate complex rearrangements involving Y chromosome in patients featuring short stature and DSD. (bvsalud.org)
  • Several esoteric (but quintessentially fly) genetic subjects are also given an unusually full treatment here, including autosynaptic chromosomes, transvection and position effect. (silverchair.com)
  • Topics covered includes: historical perspective of genetics, inheritance patterns and the chromosomal basis of heredity, sex chromosomes in sex determination and sexual dimorphism, cells reproduce through DNA and nucleic acids, DNA transcribes into RNA that ultimately translates into protein, prokaryotic and eukaryotic genes, genetic basis of cancer and how it relates to the cell cycle. (freebookcentre.net)
  • Topics covered includes: structure and function of genes, chromosomes and genomes, biological variation resulting from recombination, mutation, and selection, population genetics, use of genetic methods to analyze protein function, gene regulation and inherited disease. (freebookcentre.net)
Aneuploidy6
  • XXY aneuploidy, the most common human sex chromosome disorder, has a prevalence of 1 in 500 males. (medscape.com)
  • Conclusion: We observed high frequency of aneuploidy and sex chromosomal mosaicism in azoospermic men and high structural aberrations in males with low sperm quality. (ijfs.ir)
  • So that, high chromosomal aneuploidy was detected in males with lower sperm count and high structural aberration was detected in males with low sperm quality. (ijfs.ir)
  • Aneuploidy is a condition in which there is the addition or deletion of one or more chromosomes in a diploid set of chromosomes. (biologyideas.com)
  • Aneuploidy may be hypoploidy (loss of one chromosome from a genome) or hyperdiploid (one or more chromosomes extra in a set of chromosomes). (biologyideas.com)
  • Aneuploidy - failure of segregation of chromatids during cell division cycle results in the gain or loss of chromosome. (solarpoultry.com)
Cytogenetics4
Meiosis4
  • The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair of parental chromosomes or chromatids and the other has none. (nih.gov)
  • It seems probable that the scheme outlined in this paper will apply for the case of inversions that do not include the locus of the spindle attachment and for other chromosome aberrations in which crossing-over gives rise to chromatids with two spindle attachments, and where the conditions of meiosis are such that (a) the meiotic spindles are oriented so that the reduced nuclei lie approximately on a single straight line, and (b) only one of the terminal nuclei functions in further development. (caltech.edu)
  • Usually the extra X is result of chromosome nondisjunction in male or female meiosis [18]. (biobender.com)
  • Golic and Hawley are progeny of the Larry Sandler lineage, steeped in the traditions of meiosis, hard-core chromosome mechanics, fly lore and scholarship. (silverchair.com)
Loss of a sex chromosome2
  • On the contrary, although loss of a sex chromosome is observed in a broad range of hematological malignancies, how it cooperates in disease development is less understood. (oncotarget.com)
  • With the widespread detection of loss of a sex chromosome in different hematological malignances, the elucidation of the role of pseudoautosomal region genes in the development and progression of these diseases would be invaluable to the field. (oncotarget.com)
Aneuploidies3
  • Other sex chromosomal aneuploidies are included in the KS group of chromosomal disorders. (medscape.com)
  • The most common chromosomal aberrations associated especially with severe oligo- and azoospermia are sex chromosome aneuploidies and chromosomal translocations. (virascience.com)
  • Although the sperm of Klinefelter men usually have a normal 23 X or 23 Y haploid genome an increased rate of autosomal and sex chromosome aneuploidies was reported in KS men's offspring [19]. (biobender.com)
Deletions4
  • A post-natal karyotype and chromosomal SNP microarray revealed deletions of both terminal regions of the Y chromosome, consistent with the prenatal diagnosis of the ring Y chromosome. (juniperpublishers.com)
  • With this test the most common causes of male infertility can be detected: AZF deletions on the Y-chromosome, (non-mosaic) sex chromosomal aberrations (e.g. (radboudumc.nl)
  • Like deletions, duplications can happen anywhere along the chromosome. (solarpoultry.com)
  • The only true Y chromosome structural rearrangements, reported so far, are large-scale ECAY deletions in 64,XY sex reversal mares (Raudsepp et al. (veteriankey.com)
Humans4
  • In the germ-line (the sex cells) the chromosome number is n (humans: n = 23).p28 Thus, in humans 2n = 46. (wikipedia.org)
  • Humans have one pair fewer chromosomes than the great apes. (wikipedia.org)
  • It causes due to non-disjunction of chromosomes e.g. in humans, 46 chromosome is a diploid condition. (biologyideas.com)
  • The vast majority of humans are born with male or female reproductive systems, secondary sexual characteristics, and chromosomal structure, and there is a small segment (the size of this category would depend on what degree of ambiguity is used to mark the category) born with reproductive or sexual anatomy that doesn't fit the definitions of female or male - anomalies of sex chromosomes, gonads, and/or anatomic sex. (nationofchange.org)
Autosomes4
  • A ring chromosome is an extremely rare chromosomal aberration, which can occur in autosomes and sex chromosomes. (juniperpublishers.com)
  • The mother and father each contribute one set of 22 autosomes and one sex chromosome. (solarpoultry.com)
  • Presentation Summary : Human Chromosomal Disorders Human disorders due to chromosome alterations in autosomes (Chromosomes 1-22). (solarpoultry.com)
  • Before fertilization, the cytoplasm of the eggs deposited by race B females is so influenced by the chromosomes present in it, that an interaction between this cytoplasm and the autosomes of race A (introduced by the spermatozoon) results in the development of small testes in males arising from such eggs. (caltech.edu)
Homologous3
  • Although the X and Y sex chromosomes are highly divergent, the pseudoautosomal regions are homologous between both chromosomes. (oncotarget.com)
  • In this condition, there is one chromosome less in one homologous pair i.e. 2n - 1 condition. (biologyideas.com)
  • Belling(1) suggested that the chromosome rings found in Oenothera by Cleland(2) and others are to be explained as resulting from exchanges of ends between non-homologous chromosomes, so that one chromosome of a given complex is homologous at one end to one chromosome of a second complex, and at the other end to a different chromosome of the second complex. (caltech.edu)
Karyotype10
  • A karyotype is the general appearance of the complete set of chromosomes in the cells of a species or in an individual organism, mainly including their sizes, numbers, and shapes. (wikipedia.org)
  • A karyogram or idiogram is a graphical depiction of a karyotype, wherein chromosomes are generally organized in pairs, ordered by size and position of centromere for chromosomes of the same size. (wikipedia.org)
  • A full account of a karyotype may therefore include the number, type, shape and banding of the chromosomes, as well as other cytogenetic information. (wikipedia.org)
  • [ 1 ] The etiology was thought to be due to an endocrine disorder of unknown cause, until 1959, when Jacobs et al recognized that Klinefelter syndrome was a chromosomal disorder in which there is an extra X chromosome, resulting in the karyotype 47,XXY. (medscape.com)
  • Today, the term Klinefelter syndrome (KS) refers to a group of chromosomal disorders in which the normal male karyotype, 46,XY, has at least one extra X chromosome. (medscape.com)
  • Exclusion criteria comprised constitutional hypodiploidy, monosomy 7, composite karyotype, and t(8;21) with concurring sex chromosome loss. (bvsalud.org)
  • On karyotype, the presumptive ring Y chromosome was present in 29% of the cells and a single X chromosome was present in the other 71% of cells. (juniperpublishers.com)
  • i.e. azoospermia and oligozoospermia [6 11 12 15 The aberrations include numerical defects such as the XYY karyotype in Klinefelter syndrome or its variants and structural rearrangements Robertsonian translocations balanced reciprocal AVL-292 translocations and inversions. (biobender.com)
  • Rarely infertile men with normal karyotype have chromosome aberrations in sperm [16]. (biobender.com)
  • Increased germ cell defects have been reported for chromosomes 21 22 X and Y [15 16 Klinefelter syndrome (KS karyotype 47 XXY) is the most common chromosomal aberration detected in up to 14% of infertile patients with azoospermia [17]. (biobender.com)
Somatic4
  • The basic number of chromosomes in the somatic cells of an individual or a species is called the somatic number and is designated 2n. (wikipedia.org)
  • As the number of supernumerary X chromosomes increases, somatic and cognitive development are more likely to be affected. (medscape.com)
  • The review provides a brief account of the structure of somatic and meiotic chromosomes, stressing the high conservation of structure in plants and animals, with emphasis on aspects that require further research. (biomedcentral.com)
  • These studies reaffirmed that chromosome structure and behavior in somatic and germ cell divisions were common to all plants and animals. (biomedcentral.com)
Numerical2
Abnormality3
  • Mutagenic studies consisted of unscheduled DNA synthesis in human diploid WI-38 cells, mutation frequency in host mediated assays, sex linked recessive lethal mutation and loss of X or Y chromosomes in Drosophila melanogaster, spermhead abnormality in rats and mice, chromosomal aberrations in rat bone marrow, and rat dominant lethal experiments. (cdc.gov)
  • Perchloroethylene caused spermhead abnormality in mice, positive responses in host mediated assay, and weak or borderline responses in tests for unscheduled DNA synthesis and bone marrow aberrations. (cdc.gov)
  • Even if they are considered to be intersexual, the abnormality may be induced by any one of at least seven different Minutes, or by other independent combinations of genes, and therefore cannot be used to support the view that there are very few loci involved in the determination of sex. (caltech.edu)
Structural3
  • 22) * After my arrival in the United States, I participated in a major study concentrating on structural changes of the chromosomes in the white blood cells following LSD administration. (druglibrary.net)
  • The first group includes papers describing structural changes of the chromosomes produced by LSD in vitro , ** in these experiments various concentrations of LSD are added to cultures of cells from human, animal, or plant tissues in a test-tube. (druglibrary.net)
  • The possibility of inducing structural changes in the chromosomes by exogenous agents such as radiation, viruses, and a variety of chemicals, has been a subject of great scientific interest for a long time. (druglibrary.net)
Complete set of chromosomes1
Genetics3
  • A gene is a segment of deoxyribonucleic acid (DNA) and contains the code for a specific protein that functions in one or more types of cells in the body (see Genes and Chromosomes for a discussion about genetics). (solarpoultry.com)
  • A recent paper in this journal by Detlefsen(1) is introduced as follows: "There is a well intrenched concept of recent genetics that hereditary factors or genes may be given fairly definite loci on chromosome maps and that these maps correspond to or represent, roughly perhaps, the actual conditions in the chromosome. (caltech.edu)
  • This note covers the following topics: quantitative versus qualitative genetics, Hardy-Weinberg law for gene frequency stability in large populations, Relationship and inbreeding, Estimation of breeding values, Inbreeding, crossing and bred structure, Chromosomes and chromosome aberrations, Genetics on hair and coat colour in mammals, Estimating- and biotechnology and disease resistance. (freebookcentre.net)
Polymorphism1
  • This polymorphism is primarily attributed to the various amount of Y heterochromatin, though earlier studies also suggest variation in the euchromatic portion of the chromosome (Power, 1988). (veteriankey.com)
Deletion1
  • Ten cases with known cryptic aberrations were selected (seven cases with subtelomeric rearrangements, one case with an interstitial deletion and two cases with microdeletion syndromes: one case with DiGeorge syndrome and one case with a microdeletion of 17p11 (Smith Magenis syndrome) in 60% of the lymphocytes). (bmj.com)
Translocation2
  • We have localized an essential part of the sex-determining function to a portion of interval 1A, on the basis of the discovery of a female with a reciprocal Y;22 translocation and part of 1A deleted at the translocation breakpoint. (nih.gov)
  • Despite the large chromosome fragments involved in the unbalanced translocation in this case, repeated standard G-band analysis could not reveal this rearrangement due to the similarity in the banding pattern of the chromosome fragments involved. (bmj.com)
Chromatids4
  • In schematic karyograms, just one of the sister chromatids of each chromosome is generally shown for brevity, and in reality they are generally so close together that they look as one on photomicrographs as well unless the resolution is high enough to distinguish them. (wikipedia.org)
  • This consists of a failure in the chromosome pairs or the chromatids to separate in the first or second meiotic divisions or during mitosis. (solarpoultry.com)
  • It has been shown above that crossovers between X chromosome segments inverted with respect to one another influence the orientation of the meiotic tetrads in such a way as to eliminate the single crossover chromatids, leaving a normal non-crossover one in the reduced egg nucleus. (caltech.edu)
  • We now recognize that, following DNA replication, the metaphase chromosome consists of two chromatids held together by a centromere and by cohesin. (biomedcentral.com)
Sets of chromosomes2
Probes5
  • Isolation and characterization of Y chromosome DNA probes. (barrowneuro.org)
  • and Golbus, M S, "Isolation and characterization of Y chromosome DNA probes. (barrowneuro.org)
  • Comparison of the human with the sheep genomes by use of human chromosome-specific painting probes. (cnr.it)
  • 3- 16 However, these probes only reveal chromosome rearrangements located in the subtelomeric region. (bmj.com)
  • Therefore, microdissected Y-chromosome probes are good for FISH but not suitable for cloning and sequencing of the male-specific or pseudoautosomal regions of the chromosome. (veteriankey.com)
Turner's1
  • The X,t(Y;22) female lacks the ZFY gene but does not exhibit the complex phenotype known as Turner's syndrome, arguing against the hypothesis that ZFY is the Turner's syndrome gene on the Y chromosome. (nih.gov)
Common chromosomal1
  • Trisomy 21, also referred to as Down's syndrome, is a chromosomal aberration characterized by the presence of an additional chromosome 21.Trisomy 21 is associated with a rate of incidence of 1:600 among newborns and is one of the most common chromosomal … However, they can also have detrimental effects. (solarpoultry.com)
Cytogenetic aberrations3
  • The sensitivity, accuracy and feasibility of application of SCE as an in vitro screening test has been evaluated against cytogenetic aberrations and the Ames test. (soton.ac.uk)
  • A method is proposed to allow quantitative estimates to be made of mutation frequency.The induction of SCE and cytogenetic aberrations in human lymphocytes and point-mutation in Salmonella has been investigated following exposure to a range of selected direct-acting chemical mutagens. (soton.ac.uk)
  • Also, the lack of molecular tools for the study of ECAY has considerably hindered the detection of fine-scale cytogenetic aberrations. (veteriankey.com)
Autosomal chromosomes2
  • So, in normal diploid organisms, autosomal chromosomes are present in two copies. (wikipedia.org)
  • Primary amenorrhea which result commonly from sex chromosome aberration as geneticabnormalities, may result from oneaberration in autosomal chromosomes or in association with sex chromosomal aberrations. (iasj.net)
Presence of the Y chromosome1
  • Whether a human embryo develops as a male or a female is determined by the presence of the Y chromosome. (nih.gov)
Centromere2
  • Iso-chromosomes: A new type of chromo-some may arise from a break (i.e., a misdivision) at the centromere. (solarpoultry.com)
  • of someones chromosomes (while a cell is in mitosis), cut them out and match them up using size, banding pattern and centromere position as guides. (solarpoultry.com)
Salivary gland1
  • The salivary gland chromosome technique has made it possible to demonstrate not only that these are inverted sections, but also that there are many different inversions present in wild populations inhabiting different geographical regions. (caltech.edu)
Mitosis1
Human8
  • Human chromosome 2 appears to have resulted from the fusion of two ancestral chromosomes, and many of the genes of those two original chromosomes have been translocated to other chromosomes. (wikipedia.org)
  • The long series of GA repeats in Y5, anticipated to be polymorphic, may provide a sensitive means to follow Y chromosome variation in human populations. (barrowneuro.org)
  • ZOO-FISH and R-banding reveal extensive conservation of human chromosome regions in euchromatic regions of river buffalo chromosomes. (cnr.it)
  • Before observing SCE's in chemically treated lymphocytes the spontaneous SCE frequency in human lymphocytes was investigated for natural variation eg due to donor age or sex differences. (soton.ac.uk)
  • This section publishes research on the variety and impact of chromosomal aberrations on all types of human cancer. (biomedcentral.com)
  • Known human disorders include Charcot-Marie-Tooth disease type 1A, which may be caused by duplication of the gene encoding peripheral myelin protein 22 (PMP22) on chromosome 17. (solarpoultry.com)
  • Additionally, there are two reports about infertile stallions having XXY sex chromosomes - an equine counterpart to human Kleinfelter syndrome (Kubien et al. (veteriankey.com)
  • There are three categories of biological human sex: male, female, and intersex. (nationofchange.org)
Infertility2
  • Gonadal development is particularly susceptible to each additional X chromosome, resulting in seminiferous tubule dysgenesis and infertility, as well as hypoplastic and malformed genitalia, as seen in polysomy X males. (medscape.com)
  • Y-chromosome microdeletion syndrome occurs in approximately 7,5% of males with confirmed infertility. (cloudhealthlabs.com)
Down's1
  • Trisomy 21 → gain of an extra chromosome 21, results in Down's syndrome. (mindmeister.com)
Mosaic1
  • Balanced translocations and (low-grade) mosaic sex chromosomal aberrations cannot be detected with exome sequencing. (radboudumc.nl)
Deoxyribonucleic acid1
  • It includes a small number of papers dealing with the detailed mechanism of the action of LSD on the deoxyribonucleic acid (DNA), the most important constituent of the chromosomes. (druglibrary.net)
Whole chromosome1
  • We wish to call attention to the fact that in his last paper Castle ignores our proof of the linear order that is furnished by building up the whole chromosome (or even large sections of it) by "distances" so short that no double cross-over classes appear. (caltech.edu)
Different chromosome1
  • The 10 cases contained altogether 16 aberrations, with sizes ranging from 1.3 to 20.5 Mb, and they were located on 15 different chromosome arms. (bmj.com)
Determination2
  • Most of these conditions are associated with abnormal sex determination and/or sexual development (for review, see Villagomez et al. (veteriankey.com)
  • It is, therefore, not clear whether haploinsufficiency for Xp genes in XO cells or the overdose of MSY and PAR genes in Xi(Y) cells is the cause of abnormal sex determination and differentiation in these animals. (veteriankey.com)
Polyploid1
Trisomy 131
  • Because of the various life-threatening medical problems surrounding this condition, the majority of infants with trisomy 13 … 12.24, the two resultant telocentric chromosomes may open up to produce chromosomes with two identical arms (i.e., iso-chromosomes). (solarpoultry.com)
Cells8
  • The sex of an unborn fetus can be predicted by observation of interphase cells (see amniotic centesis and Barr body). (wikipedia.org)
  • Fluorescence and Giemsa banding studies of the allocyclic X chromosome in embryonic and adult mouse cells. (wikidata.org)
  • Moreover, a reliable in vitro study (Murie and Innes, 1997 K3 CSR) is available in which the potential of LAS Na to cause chromosomal aberrations in mammalian cells was examined. (europa.eu)
  • FISH analysis demonstrated the presence of a ring Y chromosome in 37.1% of the cells. (juniperpublishers.com)
  • The result is that some cells have the normal number of 46 chromosomes, and other cells have more (47) or fewer (45) chromosomes. (solarpoultry.com)
  • Chromosomes are structures within cells that contain DNA and many genes. (solarpoultry.com)
  • The mechanisms of transmission of both discontinuous and continuous characteristics across the generations were unknown before Mendel's laws were explained at the turn of the 20th Century by the behavior of chromosomes in germ cells [ 2 , 3 ]. (biomedcentral.com)
  • Since the long arm of ECAY carries the MSY and the PAR, the cells with i(Y) are genetically similar to those with Y chromosome disomy (YY). (veteriankey.com)
Syndrome5
  • Testosterone is determined in men when reduced testosterone production is suspected, e.g. in hypogonadism, estrogen therapy, chromosome aberrations (as in the Klinefelter's syndrome) and liver cirrhosis. (cdc.gov)
  • This mosaicism, due to the presence of the ring Y chromosome and depending upon on the presence or absence of the SRY gene can result in a wide spectrum of manifestations ranging from females with a Turner syndrome-like phenotype to phenotypic males. (juniperpublishers.com)
  • Down Syndrome - Extra chromosome at position 21. (solarpoultry.com)
  • The only significantly raised risks of cancer incidence or mortality in the cohort were for lung cancer and breast cancer in patients with Klinefelter's syndrome with a 47,XXY constitution, and non-Hodgkin's lymphoma in men with more than three sex chromosomes. (ox.ac.uk)
  • Smokers produce sperm with the wrong number of chromosomes, a DNA error that leads to miscarriages and Down Syndrome . (susansmithjones.com)
Phenotype1
Recessive1
  • 2) If the normal X's of such hyperploids carry the recessive gene for yellow, the flies are wild-type in appearance because of the presence of +y in the duplicating chromosome. (caltech.edu)
MOSAICISM1
Pairs2
  • For example, the legumes Lotus tenuis and Vicia faba each have six pairs of chromosomes, yet V. faba chromosomes are many times larger. (wikipedia.org)
  • General designation for syndromes due to chromosomal aberrations, typically associated with mental … Thus, there are normally 23 pairs of chromosomes in the fertilized egg. (solarpoultry.com)
Species2
  • Five of these lie in the X-chromosome, and a study of their linkage relations was shown to indicate that the sequence of the five loci concerned is the same in both species, and that the percentages of crossing over in comparable regions, while not indentical, is still not very different. (caltech.edu)
  • Phylogenomic studies using chromosome painting confirms the high conservation of DNA between even distantly related species [ 13 ]. (biomedcentral.com)
Vitro1
  • In this case, possible clastogenicity is examined in an in vitro and in vivo chromosome aberration study and therefore not considered necessary in the Ames test. (europa.eu)
Males3
  • Sex chromosomes determine an individual's sex: females have two X chromosomes (XX), and males have an X and a Y chromosome (XY). (solarpoultry.com)
  • These matings included at least 500 mass cultures, of which 74 produced hybrid offspring -- a total of 532 females and 635 males, all wild type for the sex -- linked mutant characters used. (caltech.edu)
  • It was shown by Lancefield (1929) that D. pseudoobscura A-B hybrid females, when back-crossed either to A or to B males, give sex-ratios among their offspring that may deviate widely (in either direction) from 1:1. (caltech.edu)
Drosophila3
  • Under ordinary conditions there is so little crossing over in the fourth chromosome of Drosophila melanogaster that the usual method of constructing a map is not practicable. (caltech.edu)
  • In a series of papers, Serebrovsky (1930), Dubinin (1929), Agol (1930) and their colleagues have described an extremely interesting group of bristle-reducing mutant genes lying at the scute locus of the X-chromosome of Drosophila melanogaster. (caltech.edu)
  • In September, 1913, a wild female Drosophila of a stock from Liverpool, Nova Scotia, was crossed to a male bearing the second chromosome mutant characters vestigial and speck. (caltech.edu)
Hypogonadism1
  • [ 9 ] Consequences of an extra X chromosome, usually acquired through a nondisjunctional error during parental gametogenesis, include hypogonadism, gynecomastia, and psychosocial behavioral concerns. (medscape.com)
Behavior1
  • The present study is concerned chiefly with the behavior of a duplicating chromosome derived from the undescribed scute allelomorph known as scute-10-2. (caltech.edu)
Breakage2