Male sex chromosome aberrations. Medical search. Frequent questions

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)
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)
Balanced translocations and (low-grade) mosaic sex chromosomal aberrations cannot be detected with exome sequencing. (radboudumc.nl)
3.3 Concept of Human Genome : nuclear genome, mitochondrial genome, Chromosome and chromosomal aberrations in man (Numerical and structural aberrations, point mutation), Satellite DNA. (souravsirclasses.com)
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)

Background: The present study offers our contribution on the topic by a retrospective analysis of the prevalence of chromosomal abnormalities in a population of Iranian infertile men attending assisted reproduction programs. (ijfs.ir)
Of those, 116 (13.2%) had sex chromosome abnormalities and 20(2.3%) had autosomal chromosome abnormalities. (ijfs.ir)
Chromosomal abnormalities are a major cause of male infertility. (ijfs.ir)
Chromosomal Abnormalities in Iranian Infertile Males who are Candidates for Assisted Reproductive Techniques', International Journal of Fertility and Sterility , 1(2), pp. 75-78. (ijfs.ir)
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)
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)
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)
Among the many chromosome abnormalities reported in the horse, most are unique or rare. (tamu.edu)
However, all surveys agree that there are two recurrent conditions: X-monosomy and SRY-negative XY male-to-female sex reversal, making up approximately 35% and 11% of all chromosome abnormalities, respectively. (tamu.edu)
2] The addition of more than one extra X or Y chromosome to a male karyotype results in variable physical and cognitive abnormalities. (medscape.com)
In general, the extent of phenotypic abnormalities, including mental retardation, is directly related to the number of supernumerary X chromosomes. (medscape.com)
Trisomy of sex chromosomes is compatible with life, but will cause phenotypic abnormalities. (mindmeister.com)
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)
Comparative genomic hybridization (aCGH) is a powerful diagnostic tool for detecting DNA copy number gains and losses associated with chromosome abnormalities. (enzolifesciences.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)

Each cat has a pair of sex chromosomes with the possible combinations of XX (female) and XY (male). (joewongcomedy.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 - failure of segregation of chromatids during cell division cycle results in the gain or loss of chromosome. (solarpoultry.com)
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)

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)
Chromosomal disorders: numerical disorders The most frequent cause of numerical disorders in chromosomes tends to be n ondisjunction. (solarpoultry.com)
The change in the number of chromosomes is called chromosomal numerical aberration . (biologyideas.com)

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)
Klinefelter syndrome, idic(Y), XX-male), and variants in the CFTR gene (in case of CBAVD). (radboudumc.nl)
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)
The dystrophin gene is located on the short arm of chromosome X near the p21 locus and codes for the large protein Dp427, which contains 3685 amino acids. (medscape.com)
The gene loci coding for each of the DAG complex proteins is located outside the X chromosomes. (medscape.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)
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)
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)
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)
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)
Some scientists suggest that drones are so fragile because they have only one set of chromosomes (also known as being "haploid"), giving them no opportunity to compensate for inferior genes with alternate gene versions (alleles). (americanbeejournal.com)
In cats, the gene that dictates fur color is located on the X chromosome. (joewongcomedy.com)
The X chromosome also carries the coding gene for the black and orange colors in a calico's coat. (joewongcomedy.com)
In males, who have only one X chromosome, a mutation in the only copy of the gene in each cell is sufficient to cause the condition. (medlineplus.gov)
In females, who have two copies of the X chromosome, one altered copy of the gene in each cell can lead to less severe features of the condition or may cause no signs or symptoms at all. (medlineplus.gov)
Psoni S, Sofocleous C, Traeger-Synodinos J, Kitsiou-Tzeli S, Kanavakis E, Fryssira-Kanioura H. Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion. (medlineplus.gov)

Consequently, Genetic testing and counselling is indicated for infertile men with abnormal semen parameters with either abnormal karyotype or normal karyotype before applying assisted reproductive techniques. (ijfs.ir)
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)
47 XYY syndrome This syndrome occurs in 1:1000 men but is more common among infertile males [15 17 Infertile men with the 47 XYY karyotype are otherwise healthy. (biobender.com)
It is defined classically by a 47,XXY karyotype with variants that demonstrate additional X and Y chromosomes. (medscape.com)
initializes a SexChromosomes object for a normal male karyotype. (cydas.org)
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)
Patients with mosaic 45, X/46,X(r)Y karyotype, present with phenotypes ranging from females with Turner-like phenotypes, phenotypic males and females with mixed gonadal dysgenesis, to almost phenotypic normal males [ 4 , 5 ]. (juniperpublishers.com)
Exclusion criteria comprised constitutional hypodiploidy, monosomy 7, composite karyotype, and t(8;21) with concurring sex chromosome loss. (bvsalud.org)

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)
Analysis of syndromic DNA using an oligonucleotide microarray (Agilent 4 x 180K) demonstrated the characteristic deletion in 15q11.2-q13 (chromosome 15) found in patients with Prader-Willi syndrome. (enzolifesciences.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)
In 1942, Klinefelter et al published a report on 9 men who had enlarged breasts, sparse facial and body hair, small testes, and an inability to produce sperm. (medscape.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)
Klinefelter syndrome is the most common chromosomal disorder associated with male hypogonadism and infertility. (medscape.com)
Adolescent male with gynecomastia and Klinefelter syndrome. (medscape.com)
Adolescent male with Klinefelter syndrome who has female-type distribution of pubic hair and testicular dysgenesis. (medscape.com)
Men with Klinefelter syndrome are at a higher risk of autoimmune diseases, diabetes mellitus, leg ulcers, osteopenia and osteoporosis, tumors (breast and germ cells), systemic lupus erythematosus, rheumatoid arthritis, and Sjögren syndrome and historically have increased mortality. (medscape.com)
Whether the morbidity associated with Klinefelter syndrome is a result of hypogonadism and hyperestrogenism or due to abnormal function of X chromosome linked genes is unclear. (medscape.com)
Klinefelter syndrome is the most common genetic form of male hypogonadism. (medscape.com)
Approximately 250,000 men in the United States have Klinefelter syndrome. (medscape.com)
However, men with SLE have 15 times the risk of Klinefelter syndrome (47,XXY) as compared to the average population, and the risk of SLE in men with 47,XXY is equal to that in women. (medscape.com)
The higher risk of SLE in women and men with Klinefelter syndrome may be associated with enhanced expression of toll-like receptor 7 (TLR7), a key pathogenic factor in SLE that is encoded on an X chromosome locus. (medscape.com)
Souyris et al reported that in both females and males with Klinefelter syndrome, substantial fractions of primary B lymphocytes, monocytes, and plasmacytoid dendritic cells express TLR7 on both X chromosomes, leading to greater immunoglobulin secretion. (medscape.com)

function in humans and could contribute to male infertility. (biobender.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)
It causes due to non-disjunction of chromosomes e.g. in humans, 46 chromosome is a diploid condition. (biologyideas.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)
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)
A ring chromosome is an extremely rare chromosomal aberration, which can occur in autosomes and sex chromosomes. (juniperpublishers.com)

The ploidy can occur either in the complete set of chromosomes or in the individual chromosomes. (biologyideas.com)

The emphasis, in this essay, is on the development of sound basic approaches to the study of the genetics of man, with little attention to the numerous Utopian schemes that have always been so conspicuous in the literature of eugenics. (caltech.edu)
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)

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)
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)

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)
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)

Euploidy is a condition in which an organism possesses one or more full sets of chromosomes. (biologyideas.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)

Here, we present the molecular cytogenetics of 45,X/46,X(r)Y mosaicism in a 12-year-old boy with normal male phenotype, chordee, short stature andpubertal delay. (juniperpublishers.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)

This incorrect segregation of chromosomes may result from hypomethylation of repeat sequences present in pericentromeric DNA, irregularities in kinetochore proteins or their assembly, dysfunctional spindle apparatus, or flawed anaphase checkpoint genes. (wikipedia.org)
Micronuclei primarily result from acentric chromosome fragments or lagging whole chromosomes that are not included in the daughter nuclei produced by mitosis because they fail to correctly attach to the spindle during the segregation of chromosomes in anaphase. (wikipedia.org)
[5] In animal cells, chromosomes reach their highest compaction level in anaphase during chromosome segregation . (wikipedia.org)

Whether a human embryo develops as a male or a female is determined by the presence of the Y chromosome. (nih.gov)

The progress in equine genomics and the development of molecular tools, have qualitatively improved clinical cytogenetics today, allowing for refined characterization of aberrations and understanding the underlying molecular mechanisms. (tamu.edu)
While cutting-edge genomics tools promise further improvements in chromosome analysis, they will not entirely replace traditional cytogenetics, which still is the most straightforward, cost-effective, and fastest approach for the initial evaluation of potential breeding animals and horses with reproductive or developmental disorders. (tamu.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)

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)
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 lod score calculations, incomplete penetrance of the fra(X) mutation in males and females was taken into account by the computer program LIPED. (mcmaster.ca)
Beaded Minute males are not intersexual, but are often aberrant because of incomplete development of the anal and genital imaginal discs-as are also Beaded Minute females. (caltech.edu)
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)
Race B females of Drosophila pseudoöbscura crossed to race A males produce sterile F1 hybrid males having visibly small testes. (caltech.edu)
and gendered traits and virtues (assuming that males and females will be intellectually, emotionally, or morally different from each other). (nationofchange.org)
X chromosome inactivation is the the process by which most genes on one of the two X chromosomes in females are silenced epigenetically and randomly, and so fail to produce any product. (solarpoultry.com)
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)
Female advantages are more strongly favored because females typically invest more resources into reproduction than males - a honey bee egg is roughly a million times bigger than a sperm cell, for example. (americanbeejournal.com)
Producing larger sex cells and, in the case of mammals, nurturing a developing fetus, are costly activities, thus limiting the number of offspring females can produce relative to males. (americanbeejournal.com)
Males with this condition are typically more severely affected than females, who usually have only mild intellectual disability or learning disabilities. (medlineplus.gov)

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)

Some medical authorities assert that homosexuality is either the result of genetic problems (abnormal chromosome variations) or psychological aberrations. (christiancourier.com)

During metaphase the X-shaped structure is called a metaphase chromosome, which is highly condensed and thus easiest to distinguish and study. (wikipedia.org)
We now recognize that, following DNA replication, the metaphase chromosome consists of two chromatids held together by a centromere and by cohesin. (biomedcentral.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 in polysomy X males. (medscape.com)

In all, 874 files belonging to male partner of each couple were classified as follows: azoospermic, oligozoospermic and patients with low sperm quality in respect of morphology and motility. (ijfs.ir)
Smokers produce sperm with the wrong number of chromosomes, a DNA error that leads to miscarriages and Down Syndrome . (susansmithjones.com)

Micronuclei form during anaphase from lagging acentric chromosome or chromatid fragments caused by incorrectly repaired or unrepaired DNA breaks or by nondisjunction of chromosomes. (wikipedia.org)
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)

Like deletions, duplications can happen anywhere along the chromosome. (solarpoultry.com)

As the number of 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)

All major areas of development, including expressive and receptive language and coordination, are affected by extra X chromosome material. (medscape.com)
This syndrome is the presence of two X chromosomes and one Y chromosome - in other words, a male calico cat has an extra X chromosome. (joewongcomedy.com)

Walter Sutton (left) and Theodor Boveri (right) independently developed the chromosome theory of inheritance in 1902. (wikipedia.org)
Aided by the rediscovery at the start of the 1900s of Gregor Mendel 's earlier work, Boveri was able to point out the connection between the rules of inheritance and the behaviour of the chromosomes. (wikipedia.org)
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)

19- 22 Yet none of these techniques is able to offer a high resolution screening of the whole genome for chromosome imbalances. (bmj.com)
In this condition, a pair of chromosomes is less in the genome i.e. 2n - 2. (biologyideas.com)
METHODS: Disease-relevant copy number aberrations (CNAs) were screened genome-wide in 260 children with B-cell precursor ALL. (bvsalud.org)

Chromosome specific micro-arrays have however been used in a few cases to determine the critical regions in microdeletion disorders. (bmj.com)
Title: Microsoft Word - Chapter 8 - Ch Author: gregory carey Created Date: 10/4/2000 3:51:47 PM A. Trisomy Disorders disorders in which an individual has an extra (or piece of an extra) chromosome. (solarpoultry.com)
chromosomal disorders It is caused due to absence or excess or abnormal arrangement of one or more chromosomes. (solarpoultry.com)
aCGH provides an understanding of genetic disorders, cancers and other genomic aberrations. (enzolifesciences.com)

Trisomy 21 → gain of an extra chromosome 21, results in Down's syndrome. (mindmeister.com)
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)

Micronuclei formation may also result from chromosome malsegregation during anaphase. (wikipedia.org)

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)
Genetic studies showed several years ago that the third chromosomes of wild strains of Drosophila pseudoobscura often carry suppressors of crossing-over. (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)

Inversions: A portion of the chromosome has broken off, turned upside down, and reattached, therefore the genetic material is inverted. (solarpoultry.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)
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)

2. New linkage maps of all the chromosomes are presented. (caltech.edu)
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)
12) and Morgan (Science, '12) have reported the linkage relations of two non-sex-linked genes, black and vestigial. (caltech.edu)

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)
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)

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)
On presentation, he had a normal male phenotype, short stature, palpable testes and delayed sexual development. (juniperpublishers.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)

for uncertain chromosomes, "c" for constitutional alterations. (cydas.org)
Gets or sets a value indicating if the alteration in the sex chromosomes is constitutional. (cydas.org)
a value indicating if the alteration in the sex chromosomes is constitutional. (cydas.org)

The total prevalence of oral anomalies was 15.1%, most commonly in boys (male:female ratio 3.2:1) aged 7-12 years. (who.int)

Another way eccentric chromosome fragments may arise is when defects in genes related to homologous recombinational repair (ex: ATM, BRCA1, BRCA2, and RAD51) result in a dysfunctional error-free homologous recombinational DNA repair pathway and causes the cell to resort to the error-prone non-homologous end-joining (NHEJ) repair pathway, increasing the likelihood of incorrect repair of DNA breaks, formation of dicentric chromosomes, and acentric chromosome fragments. (wikipedia.org)
In this condition, there is one chromosome less in one homologous pair i.e. 2n - 1 condition. (biologyideas.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)
Because of the instability of a ring Y chromosome during mitosis, a second monosomic cell line is often present in these patients [ 2 ]. (juniperpublishers.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)

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)

Clone Y5 was sublocalized to band Yq 11.22 by hybridization to a panel of cellular DNA from patients with Y chromosome rearrangements. (barrowneuro.org)
3- 16 However, these probes only reveal chromosome rearrangements located in the subtelomeric region. (bmj.com)
Routine chromosome analysis (450-500 bands) had failed to detect the rearrangements in all cases. (bmj.com)
hence, an absence of sex chromosomes may be caused by such rearrangements. (cydas.org)

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)
E.g. males in honey bees and wasps are haploid with normal features, while in amphibians if it occurs then causes abnormality. (biologyideas.com)
Male calico cats are rare because like human males with Kleinfelter's Syndrome, they suffer from a chromosomal abnormality in which they have 2 X chromosomes along with the Y, instead of one. (joewongcomedy.com)

Acentric chromosome fragments may arise in a variety of ways. (wikipedia.org)
If DNA damage exceeds the repair capacity of the cell, unrepaired double-stranded DNA breaks may also result in acentric chromosome fragments. (wikipedia.org)

Large-scale cytogenetic surveys show that almost 30% of horses with reproductive or developmental problems have chromosome aberrations, whereas abnormal karyotypes are found in only 2-5% of the general population. (tamu.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)

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)
however, the decline in testosterone production is progressive over the life span, and not all men suffer from hypogonadism. (medscape.com)

These full chromosomes or chromatid fragments are eventually enclosed by a nuclear membranes and are structurally similar to conventional nuclei, albeit smaller in size. (wikipedia.org)
One way is that disrepair of DNA double-strand breaks can lead to symmetrical or asymmetrical chromatid and chromosome exchanges as well as chromatid and chromosome fragments. (wikipedia.org)
Clone Y1 hybridized to multiple restriction enzyme fragments in both male and female DNA with more intense bands in male DNA. (barrowneuro.org)

In men, testosterone is synthesized almost exclusively by the Leydig cells of the testes. (cdc.gov)
Some use the term chromosome in a wider sense, to refer to the individualized portions of chromatin in cells, either visible or not under light microscopy. (wikipedia.org)
Citation: Loveday KS, Anderson BE, Resnick MA, Zeiger E. Chromosome aberration and sister chromatid exchange tests in Chinese hamster ovary cells in vitro. (nih.gov)
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)
FISH analysis demonstrated the presence of a ring Y chromosome in 37.1% of the cells. (juniperpublishers.com)
It is studied in some animals like reptiles, man, some cells of birds, and other invertebrates. (biologyideas.com)
And because a cat's fur color is linked to its cells' X chromosomes, calico cats are rarely male. (joewongcomedy.com)
Male cells have only one X chromosome, meaning normally, males are just one color. (joewongcomedy.com)

[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)

It has been proposed that racial/ethnic variation in prostate cancer incidence may be, in part, due to racial/ethnic variation in sex steroid hormone levels. (cdc.gov)
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)
The frequency of a ring chromosome in clinically detectable conceptions is 1/25,000 however, the incidence of the ring Y chromosome is unknown [ 1 ]. (juniperpublishers.com)

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)

While semen analyses of 47 XYY males frequently indicate oligozoospermia or azoospermia the majority of them are fertile with normal semen parameters [16]. (biobender.com)
AVL-292 Overall SCAs occur in nearly 5% in infertile men (0.5% in the general AVL-292 population) [11 12 17 Most frequently SCAs are found in patients with azoospermia and oligozoospermia. (biobender.com)

more than 3,000 affected males are born yearly. (medscape.com)
Approximately one in 3,000 calicos are male. (joewongcomedy.com)

Male calicoes tend to live shorter lives than female calicoes because of a genetic condition called Klinefelter's Syndrome. (joewongcomedy.com)

A chromosome is a long DNA molecule with part or all of the genetic material of an organism. (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)

Anatomy18

Organisms1

Diseases9

Chemicals and Drugs2

Analytical, Diagnostic and Therapeutic Techniques and Equipment8

Phenomena and Processes34

Disciplines and Occupations1

Anthropology, Education, Sociology and Social Phenomena1

Health Care1

Chromosomal aberrations5

Abnormalities17

Pair of sex chromosomes1

Aneuploidy5

Numerical3

Gene16

Karyotype10

Deletion2

Klinefelter13

Humans3

Autosomes4

Individual chromosomes1

Genetics2

Structural4

Meiosis3

Sets of chromosomes1

Genes and Chromosomes1

Molecular Cytogenetics3

Segregation3

Presence of the Y chromosome1

Cytogenetics2

Locus1

Salivary gland2

Females11

Translocation2

Abnormal chromosome1

Metaphase chromosome2

Infertility1

Sperm2

Nondisjunction2

Deletions1

Somatic3

Extra X chromosome2

Inheritance3

Genome3

Disorders4

Down's2

Anaphase1

Drosophila3

Inversions1

Different chromosome2

Linkage3

Chromatids2

Phenotype3

Constitutional3

Anomalies1

Homologous2

Mitosis2

Trisomy 131

Germ cells1

Rearrangements4

Abnormality3

Acentric2

Karyotypes1

Probes2

Hypogonadism2

Fragments3

Cells9

Centromere2

Incidence3

Variation1

Azoospermia2

3,0002

Klinefelter's1

Organism3