Female has two x chromosomes sex chromosome aberrations. Medical search. Frequent questions

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)
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)
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)
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)
A 46,XY sex reversal syndrome is characterized by discordant genetic and phenotypic sex, leading to normal external female genitalia, undeveloped gonads and presence of Müllerian structures in an otherwise 46,XY individual. (biomedcentral.com)
Male calicoes tend to live shorter lives than female calicoes because of a genetic condition called Klinefelter's Syndrome. (joewongcomedy.com)
They are exclusively female except under rare genetic conditions. (joewongcomedy.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)
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)
Some medical authorities assert that homosexuality is either the result of genetic problems (abnormal chromosome variations) or psychological aberrations. (christiancourier.com)
In the spring of 1979, after a decade-long study, sex researchers Masters and Johnson (who were not pillars of moral virtue) concluded that homosexuality for most persons is neither a physical or emotional illness, nor is it a genetic disorder. (christiancourier.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)
Sex differences at the genetic/epigenetic level in early development. (ubc.ca)
Changes in the structure or quantity of chromosomes , which are strands of condensed genetic material, are known as chromosomal aberrations or abnormalities. (schleiden-eifel.de)
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)
The major histocompatibility complex (MHC) on chromosome 6, which contains the human lymphocyte antigens (HLA), was the first described genetic link to SLE. (medscape.com)

Each cat has a pair of sex chromosomes with the possible combinations of XX (female) and XY (male). (joewongcomedy.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)
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)
Compared to autosomes and the X chromosome, relatively few numerical or structural cytogenetic abnormalities have been reported for ECAY. (veteriankey.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)
However, within populations there can be found abnormalities involving the structure or number of chromosomes . (schleiden-eifel.de)
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)

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)

Chromosome 9 aberrations involving the terminal end of p arm, such as terminal p deletions or ring chromosomes have been reported to cause 46,XY DSD. (biomedcentral.com)
Like deletions, duplications can happen anywhere along the chromosome. (solarpoultry.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)
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)
Deletions can be very large, encompassing many genes and megabases of DNA, to the point of producing a visible cytological abnormality in a chromosome. (findmice.org)

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)
examples include aneuploidy (atypical chromosome number), deletion (loss of part of a chromosome), duplications (extra copies of a region of a chromosome), inversion (when part of a chromosome breaks off and reattaches in reverse. (schleiden-eifel.de)

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)
Chromosome 9pter aberrations, such as ring chromosome have been reported to cause 46,XY disorders of sex development (DSD), due to involvement of DMRT1 gene located at the 9p24.3 region. (biomedcentral.com)
Sex reversal due to haploinsufficiency of DMRT1 gene in ring chromosome 9 structures is exceedingly rare with only a handful of cases ever reported. (biomedcentral.com)
This finding further highlights the importance of DMRT1 gene in sex determination and differentiation in males. (biomedcentral.com)
Sex determination and development in males occurs during the embryonic period, and is initiated by the expression of SRY gene located on the short arm of the Y chromosome. (biomedcentral.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)
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)
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)
This might be because rearrangements in the gene-poor Y chromosome have milder effect on the phenotype, as a result of which the affected individuals escape attention and are not subjected to cytogenetic analysis. (veteriankey.com)
The probes have been used for molecular hybridizations (fluorescence in situ hybridization, or FISH) in clinical cytogenetics, Y chromosome mapping, sequencing, gene discovery, and comparative Y chromosome studies between the horse and other equids/ Perssodactyls. (veteriankey.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)

This study presents a unique case of a 12-year-old female with mos 46,XY, (r)9[31]/45,XY,-9[9] karyotype, presenting with intellectual disability and short stature, mimicking Turner syndrome. (biomedcentral.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)
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)
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)

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

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)
Consomic (or Chromosome Substitution Strains) are derived by backcrossing to a parental inbred strain for at least ten generations while selecting for retention of a specific whole chromosome from the donor strain. (findmice.org)

What are 2 types of chromosomal aberration? (biologyideas.com)

A chromosomal rearrangement or a numerical chromosomal aberration. (findmice.org)

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)
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)

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)

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)
Male cells have only one X chromosome, meaning normally, males are just one color. (joewongcomedy.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)
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)
B. This chromosomal aberration tends to manifest in males in the form of absent or delayed puberty, sterility, development of breast, etc. (schleiden-eifel.de)
Fragile X: Affects 1:1500 males and 1:2500 females. (schleiden-eifel.de)
Males with this condition are typically more severely affected than females, who usually have only mild intellectual disability or learning disabilities. (medlineplus.gov)
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)
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)

Identification of regions with copy number aberrations and the genes involved thus offers a basis for better understanding of cancer development [ 6 ]. (biomedcentral.com)
METHODS: Disease-relevant copy number aberrations (CNAs) were screened genome-wide in 260 children with B-cell precursor ALL. (bvsalud.org)

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)

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)

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)

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)

Euploidy is a condition in which an organism possesses one or more full sets of chromosomes. (biologyideas.com)
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)
what do you call an organism with four sets of chromosomes . (schleiden-eifel.de)
In an organism, any visible abnormality in chromosome number or structure from the diploid set is known as chromosomal aberration . (schleiden-eifel.de)

CGH array revealed a deletion around 1.25 Mb at 9p24.3 loci [arr 9p24.3(204,193-1,457,665)× 1] and three duplications around 13 Mb [9p24.3p22.3(1,477,660-14,506,754)× 3] near the breakage point that formed the ring chromosome 9. (biomedcentral.com)
Duplications can lead to an increase in the number of genes carried on a chromosome and may or may not be cytologically visible. (findmice.org)

Chromosomal disorders: numerical disorders The most frequent cause of numerical disorders in chromosomes tends to be n ondisjunction. (solarpoultry.com)
chromosomal disorders It is caused due to absence or excess or abnormal arrangement of one or more chromosomes. (solarpoultry.com)
Because even small segments of chromosomes can span many genes, chromosomal disorders are characteristically dramatic and often fatal. (schleiden-eifel.de)

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)

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)

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)
As the number of X chromosomes increases, somatic and cognitive development are more likely to be affected. (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)
All major areas of development, including expressive and receptive language and coordination, are affected by extra X chromosome material. (medscape.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)
Smokers produce sperm with the wrong number of chromosomes, a DNA error that leads to miscarriages and Down Syndrome . (susansmithjones.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)

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)

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)

It causes due to non-disjunction of chromosomes e.g. in humans, 46 chromosome is a diploid condition. (biologyideas.com)
These are some of the most common cytogenetically visible rearrangements in humans - for example , the pericentric inversion of chromosome 9 is found in over. (schleiden-eifel.de)

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)

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)

An important breakthrough in horse Y chromosome research came with the availability of new genomics tools and resources, such as large-insert genomic bacterial artificial chromosome (BAC) libraries (for review, see Rubes et al. (veteriankey.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)

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)

Walter Sutton (left) and Theodor Boveri (right) independently developed the chromosome theory of inheritance in 1902. (wikipedia.org)

Elaborating its molecular defects play an imperative role in understanding sex determination and development in the embryo. (biomedcentral.com)
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)

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)

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)

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 incidence of XY DSD is found to be 1 in 20,000 live births and is diagnosed with the presence of a female phenotype or undervirilized male in XY individuals [ 2 ]. (biomedcentral.com)
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)

Isolation and characterization of Y chromosome DNA probes. (barrowneuro.org)
and Golbus, M S, "Isolation and characterization of Y chromosome DNA probes. (barrowneuro.org)
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)

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)
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)
Routine chromosome analysis (450-500 bands) had failed to detect the rearrangements in all cases. (bmj.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)
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)

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)

[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)

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 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)

A sorted, cloned Y chromosome phage library was screened for unique Y chromosome sequences. (barrowneuro.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)
All the other chromosomes are still arranged in pairs of two, but. (schleiden-eifel.de)

The clinical presentation of the subject that mimics Turner syndrome highlights the importance of cytogenetic analysis to detect the possibility of ring chromosome 9. (biomedcentral.com)
Down Syndrome - Extra chromosome at position 21. (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)
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)
Adolescent male with Klinefelter syndrome who has female-type distribution of pubic hair and testicular dysgenesis. (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)

A chromosome consists of a long, continuous strand of DNA and associated proteins. (findmice.org)

More research is required to pinpoint the exact mechanism that underlies sex reversal caused by DMRT1 haploinsufficiency. (biomedcentral.com)
XY sex reversal is a relatively rare type of DSD (disorder of sexual development). (biomedcentral.com)

The X chromosome carries genes that play roles in many body systems, including testis function, brain development, and growth. (medscape.com)

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)
And because a cat's fur color is linked to its cells' X chromosomes, calico cats are rarely male. (joewongcomedy.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)
FISH analysis demonstrated the presence of a ring Y chromosome in 37.1% of the cells. (juniperpublishers.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)
The frequency of ICF cells with chromosomal aberrations seems to increase with passage number, 3,4,40 although this is not a consistent finding. (schleiden-eifel.de)

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)
Also, the lack of molecular tools for the study of ECAY has considerably hindered the detection of fine-scale cytogenetic aberrations. (veteriankey.com)

Therefore, we conducted a case study of a 46,XY female to better understand the genotypic and phenotypic characteristics related to 9p24.3 aberration and DMRT1 loss. (biomedcentral.com)

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)
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)

Micronucleus is the name given to the small nucleus that forms whenever a chromosome or a fragment of a chromosome is not incorporated into one of the daughter nuclei during cell division. (wikipedia.org)

Owners of female cats with "sex-linked" color patterns - meaning tortoiseshell, "torbie" and calico cats - reported a higher frequency of aggression than owners of female cats of other colors. (joewongcomedy.com)

Clone Y2, also found in female and male DNA, is probably located in the pseudosutosomal region because extra copies of either the X or Y chromosomes increased Y2 restriction enzyme fragment intensity in total cellular DNA. (barrowneuro.org)
A person with a duplication has three copies of a particular chromosome segment instead of the usual two copies. (solarpoultry.com)

a complete haploid set of chromosomes is present. (schleiden-eifel.de)

Some toxins mimic female sex hormones, estrogens and progesterone, disrupting the endocrine system. (susansmithjones.com)
These data suggest that the predisposition of women to developing SLE is related to X chromosome copy number, not to sex or sex hormones. (medscape.com)

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 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)

More than a half-century ago, Pritchard's study of male homosexuals found a normal complement of XY chromosomes in every case (1962, 108). (christiancourier.com)

Anatomy47

Organisms3

Diseases14

Chemicals and Drugs3

Analytical, Diagnostic and Therapeutic Techniques and Equipment11

Phenomena and Processes73

Disciplines and Occupations2

Anthropology, Education, Sociology and Social Phenomena1

Information Science2

Health Care1

Genetic23

Pair of sex chromosomes1

Abnormalities11

Autosomes4

Deletions5

Aneuploidy4

Gene15

Karyotype8

Individual chromosomes1

Whole chromosome2

Types of chromosomal1

Numerical Chromosomal Aberration1

Inversions2

Meiosis2

Males12

Copy number aberrations2

Structural3

Male sex1

Segregation3

Portion of the chromosome1

Organism5

Duplications2

Chromosomal Disorders3

Metaphase chromosome2

Nondisjunction2

Somatic3

Extra X chromosome2

Sperm2

Down's2

Anaphase1

Heredity1

Different chromosome2

Humans2

Chromatids2

Abnormality1

BACTERIAL1

Cytogenetics2

Homologous2

Mitosis2

Trisomy 131

Theory of inheritance1

Determination3

Germ cells1

Acentric2

Incidence3

Probes4

Rearrangements3

Fragments4

Inactivation1

Centromere2

Locus2

Sequences1

Pairs2

Syndrome6

Consists1

Reversal2

Carries genes1

Cells7

Cytogenetic2

Phenotypic1

Loci2

Nucleus1

Frequency1

Copies2

Haploid1

Hormones2

Drosophila2

Complement1