Mixed Gonadal Dysgenesis
45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis, is a mutation of sex development in humans associated with sex chromosome aneuploidy and mosaicism of the Y chromosome. It is a fairly rare chromosomal disorder at birth, with an estimated incidence rate of about 1 in 15,000 live births. Mosaic loss of the Y chromosome in previously non-mosaic men grows increasingly common with age. The clinical manifestations are highly variable, ranging from partial virilisation and ambiguous genitalia at birth, to patients with completely male or female gonads. Most individuals with this karyotype have apparently normal male genitalia, and a minority have female genitalia, with a significant number of individuals showing genital abnormalities or mixed sex characteristics. A significantly higher than average number of other developmental abnormalities are also found in individuals with X0/XY mosaicism. Psychomotor development is normal. Signs and symptoms ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Mosaic (genetics)
Mosaicism or genetic mosaicism is a condition in which a multicellular organism possesses more than one genetic line as the result of genetic mutation. This means that various genetic lines resulted from a single fertilized egg. Mosaicism is one of several possible causes of chimerism, wherein a single organism is composed of cells with more than one distinct genotype. Genetic mosaicism can result from many different mechanisms including chromosome nondisjunction, anaphase lag, and endoreplication. Anaphase lagging is the most common way by which mosaicism arises in the preimplantation embryo. Mosaicism can also result from a mutation in one cell during development, in which case the mutation will be passed on only to its daughter cells (and will be present only in certain adult cells). Somatic mosaicism is not generally inheritable as it does not generally affect germ cells. History In 1929, Alfred Sturtevant studied mosaicism in '' Drosophila'', a genus of fruit f ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Histology
Histology, also known as microscopic anatomy or microanatomy, is the branch of biology that studies the microscopic anatomy of biological tissue (biology), tissues. Histology is the microscopic counterpart to gross anatomy, which looks at larger structures visible without a microscope. Although one may divide microscopic anatomy into ''organology'', the study of organs, ''histology'', the study of tissues, and ''cytology'', the study of cell (biology), cells, modern usage places all of these topics under the field of histology. In medicine, histopathology is the branch of histology that includes the microscopic identification and study of diseased tissue. In the field of paleontology, the term paleohistology refers to the histology of fossil organisms. Biological tissues Animal tissue classification There are four basic types of animal tissues: muscle tissue, nervous tissue, connective tissue, and epithelial tissue. All animal tissues are considered to be subtypes of these ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Cytogenetic
Cytogenetics is essentially a branch of genetics, but is also a part of cell biology/cytology (a subdivision of human anatomy), that is concerned with how the chromosomes relate to cell behaviour, particularly to their behaviour during mitosis and meiosis. Techniques used include karyotyping, analysis of G-banded chromosomes, other cytogenetic banding techniques, as well as molecular cytogenetics such as fluorescence ''in situ'' hybridization (FISH) and comparative genomic hybridization (CGH). History Beginnings Chromosomes were first observed in plant cells by Carl Nägeli in 1842. Their behavior in animal (salamander) cells was described by Walther Flemming, the discoverer of mitosis, in 1882. The name was coined by another German anatomist, von Waldeyer in 1888. The next stage took place after the development of genetics in the early 20th century, when it was appreciated that the set of chromosomes (the karyotype) was the carrier of the genes. Levitsky seems to have be ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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No Original Research
Wikipedia is a free content, free Online content, online encyclopedia that is written and maintained by a community of volunteers, known as Wikipedians, through open collaboration and the wiki software MediaWiki. Founded by Jimmy Wales and Larry Sanger in 2001, Wikipedia has been hosted since 2003 by the Wikimedia Foundation, an American 501(c)(3) organization, nonprofit organization funded mainly by donations from readers. Wikipedia is the largest and most-read reference work in history. Initially available only in English language, English, Wikipedia exists list of Wikipedias, in over 340 languages. The English Wikipedia, with over million Article (publishing), articles, remains the largest of the editions, which together comprise more than articles and attract more than 1.5 billion unique device visits and 13 million edits per month (about 5edits per second on average) . , over 25% of Wikipedia's web traffic, traffic comes from the United States, while Jap ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Testis Determining Factor
Sex-determining region Y protein (SRY), or testis-determining factor (TDF), is a DNA-binding protein (also known as gene-regulatory protein/transcription factor) encoded by the ''SRY'' gene that is responsible for the initiation of male sex determination in therian mammals ( placentals and marsupials). ''SRY'' is an intronless sex-determining gene on the Y chromosome. Mutations in this gene lead to a range of disorders of sex development with varying effects on an individual's phenotype and genotype. SRY is a member of the SOX (SRY-like box) gene family of DNA-binding proteins. When complexed with the steroidogenic factor 1 (SF-1) protein, SRY acts as a transcription factor that causes upregulation of other transcription factors, most importantly SOX9. Its expression causes the development of primary sex cords, which later develop into seminiferous tubules. These cords form in the central part of the yet-undifferentiated gonad, turning it into a testis. The now-induc ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Chromosomal Translocation
In genetics, chromosome translocation is a phenomenon that results in unusual rearrangement of chromosomes. This includes "balanced" and "unbalanced" translocation, with three main types: "reciprocal", "nonreciprocal" and "Robertsonian" translocation. Reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes. Two detached fragments of two different chromosomes are switched. Robertsonian translocation occurs when two non-homologous chromosomes get attached, meaning that given two healthy pairs of chromosomes, one of each pair "sticks" and blends together homogeneously. Each type of chromosomal translocation can result in disorders for growth, function and the development of an individuals body, often resulting from a change in their genome. A gene fusion may be created when the translocation joins two otherwise-separated genes. It is detected on cytogenetics or a karyotype of affected cells. Translocations can be bala ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Cell Division
Cell division is the process by which a parent cell (biology), cell divides into two daughter cells. Cell division usually occurs as part of a larger cell cycle in which the cell grows and replicates its chromosome(s) before dividing. In eukaryotes, there are two distinct types of cell division: a vegetative division (mitosis), producing daughter cells genetically identical to the parent cell, and a cell division that produces Haploidisation, haploid gametes for sexual reproduction (meiosis), reducing the number of chromosomes from two of each type in the diploid parent cell to one of each type in the daughter cells. Mitosis is a part of the cell cycle, in which, replicated chromosomes are separated into two new Cell nucleus, nuclei. Cell division gives rise to genetically identical cells in which the total number of chromosomes is maintained. In general, mitosis (division of the nucleus) is preceded by the S stage of interphase (during which the DNA replication occurs) and is f ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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DNA Replication
In molecular biology, DNA replication is the biological process of producing two identical replicas of DNA from one original DNA molecule. DNA replication occurs in all life, living organisms, acting as the most essential part of heredity, biological inheritance. This is essential for cell division during growth and repair of damaged tissues, while it also ensures that each of the new cells receives its own copy of the DNA. The cell possesses the distinctive property of division, which makes replication of DNA essential. DNA is made up of a nucleic acid double helix, double helix of two Complementary DNA, complementary DNA strand, strands. DNA is often called double helix. The double helix describes the appearance of a double-stranded DNA which is composed of two linear strands that run opposite to each other and twist together. During replication, these strands are separated. Each strand of the original DNA molecule then serves as a template for the production of its counterpart, ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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X Chromosome
The X chromosome is one of the two sex chromosomes in many organisms, including mammals, and is found in both males and females. It is a part of the XY sex-determination system and XO sex-determination system. The X chromosome was named for its unique properties by early researchers, which resulted in the naming of its counterpart Y chromosome, for the next letter in the alphabet, following its subsequent discovery. Discovery It was first noted that the X chromosome was special in 1890 by Hermann Henking in Leipzig. Henking was studying the testicles of '' Pyrrhocoris'' and noticed that one chromosome did not take part in meiosis. Chromosomes are so named because of their ability to take up staining (''chroma'' in Greek means ''color''). Although the X chromosome could be stained just as well as the others, Henking was unsure whether it was a different class of the object and consequently named it ''X element'', which later became X chromosome after it was established that it w ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Gonadoblastoma
A gonadoblastoma is a complex neoplasm composed of a mixture of gonadal elements, such as large primordial germ cells, immature Sertoli cells or granulosa cells of the sex cord, and gonadal stromal cells. Gonadoblastomas are by definition benign, but more than 50% have a co-existing dysgerminoma which is malignant, and an additional 10% have other more aggressive malignancies, and as such are often treated as malignant. Risk factors Gonadoblastoma is most often associated with an abnormal chromosomal karyotype, gonadal dysgenesis, or the presence of a Y chromosome in over 90% of cases. Gonadoblastoma has been found in association with androgen insensitivity syndrome, mixed gonadal dysgenesis and Turner syndrome, especially in the presence of Y chromosome-bearing cells. Women with Turner syndrome whose karyotype includes a Y chromosome (as in 45,X/46,XY mosaicism) are at increased risk for gonadoblastoma. Because of the risk of gonadoblastoma, individuals with Turner syndrome with ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Wolffian Duct
The mesonephric duct, also known as the Wolffian duct, archinephric duct, Leydig's duct or nephric duct, is a paired organ that develops in the early stages of embryonic development in humans and other mammals. It is an important structure that plays a critical role in the formation of male reproductive organs. The duct is named after Caspar Friedrich Wolff, a German physiologist and embryologist who first described it in 1759. During embryonic development, the mesonephric ducts form as a part of the urogenital system. Structure The mesonephric duct connects the primitive kidney, the '' mesonephros'', to the cloaca. It also serves as the primordium for male urogenital structures including the epididymides, vasa deferentia, and seminal vesicles. Development In both males and females, the mesonephric ducts develop into the trigone of urinary bladder, a part of the bladder wall, but the sexes differentiate in other ways during development of the urinary and reproduc ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Müllerian Duct
The paramesonephric ducts (or Müllerian ducts) are paired ducts of the embryo in the reproductive system of humans and other mammals that run down the lateral sides of the genital ridge and terminate at the sinus tubercle in the primitive urogenital sinus. They form in both sexes during 6th week of fetal development. In the female, go on to form the fallopian tubes/ oviducts, uterus, cervix, and the upper one-third of the vagina. In males fetuses, they are normally made to regress by anti-Müllerian hormone which begins to be secreted by the testes during 8th week of fetal development. Each maramesonephric duct is situated just lateral to the mesonephric ducts (Wolffian duct) of the same side. Development The female reproductive system is composed of two embryological segments: the urogenital sinus and the paramesonephric ducts. The two are conjoined at the sinus tubercle. Paramesonephric ducts are present on the embryo of both sexes. Only in females do they develop into ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |