MOSAIC LOSS OF CHROMOSOME Y
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Turner syndrome (TS), commonly known as 45,X, or 45,X0, is a chromosomal disorder in which cells of females have only one X chromosome instead of two, or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome. Typically, people have two sex chromosomes (XX for females or XY for males). The chromosomal abnormality is often present in just some cells, in which case it is known as Turner syndrome with mosaicism. 45,X0 with mosaicism can occur in males or females, but Turner syndrome without mosaicism only occurs in females. Signs and symptoms vary among those affected but often include additional skin folds on the neck, arched palate, low-set ears, low hairline at the nape of the neck, short stature, and lymphedema of the hands and feet. Those affected do not normally develop menstrual periods or mammary glands without hormone treatment and are unable to reproduce without assistive reproductive technology. Small chin (micrognathia), loose folds of skin on the neck, slanted eyelids and prominent ears are found in Turner syndrome, though not all will show it. Heart defects, Type II diabetes, and hypothyroidism occur in the disorder more frequently than average. Most people with Turner syndrome have normal intelligence; however, many have problems with spatial visualization that can hinder learning mathematics. Ptosis (droopy eyelids) and conductive hearing loss also occur more often than average. Turner syndrome is caused by one X chromosome (45,X), a ring X chromosome, 45,X/46,XX mosaicism, or a small piece of the Y chromosome in what should be an X chromosome. They may have a total of 45 chromosomes or will not develop menstrual periods due to loss of ovarian function genes. Their karyotype often lacks Barr bodies due to lack of a second X or may have Xp deletions. it occurs during formation of the reproductive cells in a parent or in early cell division during development. No environmental risks are known, and the mother's age does not play a role. While most people have 46 chromosomes, people with Turner syndrome usually have 45 in some or all cells. In cases of mosaicism, the symptoms are usually fewer, and possibly none occur at all. Diagnosis is based on physical signs and genetic testing. No cure for Turner syndrome is known. Treatment may help with symptoms. Human growth hormone injections during childhood may increase adult height. Estrogen replacement therapy can promote development of the breasts and hips. Medical care is often required to manage other health problems with which Turner syndrome is associated. Turner syndrome occurs in between one in 2,000 and one in 5,000 females at birth. All regions of the world and cultures are affected about equally. Generally people with Turner syndrome have a shorter life expectancy, mostly due to heart problems and diabetes. American endocrinologist Henry Turner first described the condition in 1938. In 1964, it was determined to be due to a chromosomal abnormality.
In connection with: Turner syndrome
Title combos: Turner syndrome
Description combos: mammary often endocrinologist none chromosome with physical none Xp
The Y chromosome is one of two sex chromosomes in therian mammals and other organisms. Along with the X chromosome, it is part of the XY sex-determination system, in which the Y is the sex-determining chromosome because the presence of the Y chromosome causes offspring produced in sexual reproduction to be of male sex. In mammals, the Y chromosome contains the SRY gene, which triggers development of male gonads. The Y chromosome is passed only from male parents to male offspring.
In connection with: Y chromosome
Description combos: is sex chromosome chromosome is Along mammals triggers sex
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.
In connection with: Mosaic (genetics)
Title combos: Mosaic genetics
Description combos: cells in the possesses condition one which lines mutation
A postzygotic mutation (or post-zygotic mutation) is a change in an organism's genome that is acquired during its lifespan, instead of being inherited from its parent(s) through fusion of two haploid gametes. Mutations that occur after the zygote has formed can be caused by a variety of sources that fall under two classes: spontaneous mutations and induced mutations. How detrimental a mutation is to an organism is dependent on what the mutation is, where it occurred in the genome and when it occurred.
In connection with: Postzygotic mutation
Title combos: Postzygotic mutation
Description combos: an zygotic an that sources parent and caused mutation
The stem cell theory of aging postulates that the aging process is the result of the inability of various types of stem cells to continue to replenish the tissues of an organism with functional differentiated cells capable of maintaining that tissue's (or organ's) original function. Damage and error accumulation in genetic material is always a problem for systems regardless of the age. The number of stem cells in young people is very much higher than older people and thus creates a better and more efficient replacement mechanism in the young contrary to the old. In other words, aging is not a matter of the increase in damage, but a matter of failure to replace it due to a decreased number of stem cells. Stem cells decrease in number and tend to lose the ability to differentiate into progenies or lymphoid lineages and myeloid lineages. Maintaining the dynamic balance of stem cell pools requires several conditions. Balancing proliferation and quiescence along with homing (See niche) and self-renewal of hematopoietic stem cells are favoring elements of stem cell pool maintenance while differentiation, mobilization and senescence are detrimental elements. These detrimental effects will eventually cause apoptosis. There are also several challenges when it comes to therapeutic use of stem cells and their ability to replenish organs and tissues. First, different cells may have different lifespans even though they originate from the same stem cells (See T-cells and erythrocytes), meaning that aging can occur differently in cells that have longer lifespans as opposed to the ones with shorter lifespans. Also, continual effort to replace the somatic cells may cause exhaustion of stem cells.
In connection with: Stem cell theory of aging
Title combos: aging of aging of cell Stem cell aging theory
Description combos: aging organs opposed of decreased inability cells increase decrease
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.
In connection with: 45,X/46,XY mosaicism
Title combos: mosaicism 45 mosaicism XY 46 45 46 XY mosaicism
Description combos: from births to chromosomal mosaicism and 45 are The
Mosaic loss of chromosome Y (mLOY) also known as loss of chromosome Y (LOY), is the phenomenon where the Y chromosome is lost from a subset of cells in a male's body, rather than from all cells. Instead of the expected 46,XY karyotype, the affected cells have a 45,X karyotype due to the loss of the Y chromosome. Other cells retain the original 46,XY karyotype, leading to the mosaic designation for this condition.
In connection with: Mosaic loss of chromosome Y
Title combos: chromosome Mosaic loss Mosaic of Mosaic of chromosome loss
Description combos: cells 46 phenomenon mLOY also loss known have karyotype
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