• 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)
  • 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)
  • In general, the extent of phenotypic abnormalities, including mental retardation, is directly related to the number of supernumerary X chromosomes. (medscape.com)
  • 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)
  • 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)
  • 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)
  • In eukaryotes the genetic material is organized as distinct structural entities called chromosomes. (oracleias.org)
  • Eukaryotic chromosome contain many origin of replications and the genetic material will only replicate at the S phase of cell cycle. (oracleias.org)
  • For the genetic algorithm, see Chromosome (genetic algorithm) . (wikipedia.org)
  • A chromosome is a long DNA molecule with part or all of the genetic material of an organism. (wikipedia.org)
  • Wilhelm Roux suggested that each chromosome carries a different genetic configuration , and Boveri was able to test and confirm this hypothesis. (wikipedia.org)
  • 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 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)
  • 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)
  • 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)
  • It is defined classically by a 47,XXY karyotype with variants that demonstrate additional X and Y chromosomes. (medscape.com)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • Cyril Darlington pioneered plant cytogenetics in 1920-30 and made important advances in our understanding of mechanisms of chiasma formation and the behavior of sex chromosomes in meiosis [ 7 ]. (biomedcentral.com)
  • 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)
  • Structures like centromere, kinetochore, secondary constriction and chromosomal arms are not formed in prokaryotic chromosomes. (oracleias.org)
  • Eukaryotic chromosome contains centromere kinetochore and chromosomal arms. (oracleias.org)
  • [4] Before this happens, each chromosome is duplicated ( S phase ), and both copies are joined by a centromere , resulting either in an X-shaped structure (pictured above), if the centromere is located equatorially, or a two-arm structure, if the centromere is located distally. (wikipedia.org)
  • 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)
  • We now recognize that, following DNA replication, the metaphase chromosome consists of two chromatids held together by a centromere and by cohesin. (biomedcentral.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 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)
  • In 1959, these men with Klinefelter syndrome were discovered to have an extra X chromosome (genotype XXY) instead of the usual male sex complement (genotype XY). (medscape.com)
  • The future of molecular cytogenetics is likely to depend on a better knowledge of chromosome structure and function. (biomedcentral.com)
  • One of the purposes of this review is to encourage research into chromosome structure as this could help advance molecular cytogenetics. (biomedcentral.com)
  • 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)
  • 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)
  • Standard chromosome analysis by G-banding has a limited resolution, but molecular cytogenetic techniques, such as multi-subtelomeric FISH, microdeletion FISH, multicolour FISH and comparative genomic hybridisation (CGH), have played an important role for the diagnosis of MR during the past decade. (bmj.com)
  • 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)
  • A search of a 35-kilobase region of the human Y chromosome necessary for male sex determination has resulted in the identification of a new gene. (nih.gov)
  • 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)
  • Trisomy 21 → gain of an extra chromosome 21, results in Down's syndrome. (mindmeister.com)
  • 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)
  • 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)
  • Y-chromosome microdeletion syndrome occurs in approximately 7,5% of males with confirmed infertility. (cloudhealthlabs.com)
  • 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)
  • Each eukaryotic chromosome contains a linear DNA with two ends. (oracleias.org)
  • Telomere is present in the tip of eukaryotic chromosome. (oracleias.org)
  • 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)
  • [ 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)
  • All major areas of development, including expressive and receptive language and coordination, are affected by extra X chromosome material. (medscape.com)
  • Chromosome Duplication" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
  • 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)
  • 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)
  • The major consequences of the extra sex chromosome, usually acquired through an error of nondisjunction during parental gametogenesis, include hypogonadism, gynecomastia, and psychosocial problems. (medscape.com)
  • 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)
  • The formation of a ring Y chromosome involves terminal breakage in both chromosomal arms (p and q arms) and fusion of the resulting ends with loss of the deleted distal material ( Figure 1 ). (juniperpublishers.com)
  • 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)
  • In his famous textbook The Cell in Development and Heredity , Wilson linked together the independent work of Boveri and Sutton (both around 1902) by naming the chromosome theory of inheritance the Boveri-Sutton chromosome theory (the names are sometimes reversed). (wikipedia.org)
  • 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)
  • 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)
  • The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals. (harvard.edu)
  • 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)
  • 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)
  • Karyotypes describe the chromosome count of an organism and what these chromosomes look like under a light microscope. (wikipedia.org)
  • Triploidy is a condition in which an organism contains Three sets (3n) of chromosomes in the nucleus of the body cell. (biologyideas.com)
  • Polyploidy is a condition in which an organism contains more than usual two sets (2n) of chromosomes . (biologyideas.com)
  • Walter Sutton (left) and Theodor Boveri (right) independently developed the chromosome theory of inheritance in 1902. (wikipedia.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)
  • 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)
  • Prokaryotic chromosome contains only a single origin of replication and can occur at any stage of life cycle. (oracleias.org)
  • 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)
  • 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)