Polyploidy with three sets of chromosomes. Triploidy in humans are 69XXX, 69XXY, and 69XYY. It is associated with HOLOPROSENCEPHALY; ABNORMALITIES, MULTIPLE; PARTIAL HYDATIDIFORM MOLE; and MISCARRAGES.
The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.
Trophoblastic hyperplasia associated with normal gestation, or molar pregnancy. It is characterized by the swelling of the CHORIONIC VILLI and elevated human CHORIONIC GONADOTROPIN. Hydatidiform moles or molar pregnancy may be categorized as complete or partial based on their gross morphology, histopathology, and karyotype.
The possession of a third chromosome of any one type in an otherwise diploid cell.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
The only living genus of the order Equisetales, class Equisetopsida (Sphenopsida), division Equisetophyta (Sphenophyta); distantly related to ferns. It grows in moist places. The hollow, jointed, ridged stems contain SILICATES.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
The fertilized OVUM resulting from the fusion of a male and a female gamete.
Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES.
Expulsion of the product of FERTILIZATION before completing the term of GESTATION and without deliberate interference.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
The degree of replication of the chromosome set in the karyotype.
Mapping of the KARYOTYPE of a cell.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
Tumors or cancer of the UTERUS.
The visualization of tissues during pregnancy through recording of the echoes of ultrasonic waves directed into the body. The procedure may be applied with reference to the mother or the fetus and with reference to organs or the detection of maternal or fetal disease.
Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
The beginning third of a human PREGNANCY, from the first day of the last normal menstrual period (MENSTRUATION) through the completion of 14 weeks (98 days) of gestation.
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
The age of the conceptus, beginning from the time of FERTILIZATION. In clinical obstetrics, the gestational age is often estimated as the time from the last day of the last MENSTRUATION which is about 2 weeks before OVULATION and fertilization.
Mature male germ cells derived from SPERMATIDS. As spermatids move toward the lumen of the SEMINIFEROUS TUBULES, they undergo extensive structural changes including the loss of cytoplasm, condensation of CHROMATIN into the SPERM HEAD, formation of the ACROSOME cap, the SPERM MIDPIECE and the SPERM TAIL that provides motility.
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).

Meiotic chromosome segregation in triploid strains of Saccharomyces cerevisiae. (1/40)

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Polyploidy influences sexual system and mating patterns in the moss Atrichum undulatum sensu lato. (2/40)

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The Arabidopsis mutant jason produces unreduced first division restitution male gametes through a parallel/fused spindle mechanism in meiosis II. (3/40)

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Coexistence of diploid, triploid and tetraploid crucian carp (Carassius auratus) in natural waters. (4/40)

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Recurrent triploid and dispermic conceptions in patients with NLRP7 mutations. (5/40)

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Identification of triploid individuals and clonal lines in Carassius auratus complex using microsatellites. (6/40)

The Carassius auratus complex in natural populations includes diploid triploid and polyploidy individuals. Diploid individuals belong to the species Carassius auratus whereas triploid and polyploidy individuals are from the subspecies Carassius auratus gibelio. Triploid individuals are all female and reproduce clonally by gynogenesis. Therefore the Carassius auratus complex is an ideal system for studying evolution of unisexual reproduction. Identification of triploid individuals and clonal lines is the first step towards understanding of the evolution of unisexual clonal lines. We examined the ability of 10 microsatellites in identifying triploid individuals in 94 individuals from Japan and China. In 40 confirmed triploid individuals and eight confirmed diploid individuals, all triploid and diploid individuals can be identified by genotyping 10 microsatellite, and four triploid clonal lines were identified. Using the 10 microsatellites we genotyped 46 adult individuals (40 females and six males) from a natural population in China and found that all six males were diploid whereas the majority of females (36 of 40) were triploid and three triploid clonal lines were detected. In 18 diploid individuals from China, all individuals showed different genotypes, suggesting there is no diploid clonal line in diploid crucian carp. A phylogenetic analysis of 94 individuals from China and Japan showed that triploid individuals and clonal lines have originated recurrently.  (+info)

Laboratory synthesis of an independently reproducing vertebrate species. (7/40)

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Nuclear transfer of embryonic cell nuclei to non-enucleated eggs in zebrafish, Danio rerio. (8/40)

We previously established a novel method for nuclear transfer in medaka (Oryzias latipes) using non-enucleated, diploidized eggs as recipients for adult somatic cell nuclei. Here we report the first attempt to apply this method to another fish species. To examine suitability of using non-enucleated eggs as recipients for nuclear transfer in the zebrafish (Danio rerio), we transferred blastula cell nuclei from a wild-type donor strain to non-enucleated, unfertilized eggs from a golden recipient strain. As a result, 31 of 184 (16.8%) operated eggs developed normally and reached the adult stage. Twenty-eight (15.2%) of these transplants showed wild-type phenotype and the remaining three (1.6%) were golden. Except for one individual that exhibited diploid/tetraploid mosaicism, all of the wild-type nuclear transplants were either triploid or diploid. While all of 19 triploid transplants were infertile, a total of six transplants (21.4%) were fertile (five of the eight diploid transplants and one transplant exhibiting ploidy mosaicism). Except for one diploid individual, all of the fertile transplants transferred both the wild-type golden gene allele (slc24a5) as well as the phenotype, the wild-type body color, to their F(1) and F(2) progeny in a typical Mendelian fashion. PCR analysis of slc24a5 suggested that triploidy originated from a fused nucleus in the diploid donor and haploid recipient nuclei, and that the sole origin of diploidy was the diploid donor nucleus. The results of the present study demonstrated the suitability of using non-enucleated eggs as recipients for nuclear transfer experiments in zebrafish.  (+info)

Triploidy is a genetic condition characterized by the presence of three sets of chromosomes in a cell instead of the typical two sets (two sets from each parent), resulting in a total of 69 chromosomes rather than the usual 46. This extra set of chromosomes can arise due to errors during fertilization, such as when an egg or sperm with an extra set of chromosomes is involved, or during early embryonic development.

Triploidy can lead to various developmental abnormalities and growth delays, and it is often incompatible with life. Many pregnancies with triploidy result in miscarriage, stillbirth, or early neonatal death. In some cases, infants with triploidy may be born alive but have severe medical issues, including developmental delays, physical abnormalities, and organ dysfunction.

Triploidy is not typically inherited from parents and is usually a random event during conception or early embryonic development. It can also occur in some forms of cancer, where cells may acquire extra sets of chromosomes due to genetic instability.

Polyploidy is a condition in which a cell or an organism has more than two sets of chromosomes, unlike the typical diploid state where there are only two sets (one from each parent). Polyploidy can occur through various mechanisms such as errors during cell division, fusion of egg and sperm cells that have an abnormal number of chromosomes, or through the reproduction process in plants.

Polyploidy is common in the plant kingdom, where it often leads to larger size, increased biomass, and sometimes hybrid vigor. However, in animals, polyploidy is less common and usually occurs in only certain types of cells or tissues, as most animals require a specific number of chromosomes for normal development and reproduction. In humans, polyploidy is typically not compatible with life and can lead to developmental abnormalities and miscarriage.

A hydatidiform mole, also known as a molar pregnancy, is a type of gestational trophoblastic disease (GTD), which is a group of rare disorders that involve abnormal growth of the placental tissue.

In a hydatidiform mole, there is an abnormal fertilization event leading to the growth of a mass of grapelike cysts in the uterus instead of a normal pregnancy. The chromosomes from the sperm and egg do not combine properly, resulting in an extra set of chromosomes, which leads to the development of the mole.

Hydatidiform moles can be complete or partial:

* Complete hydatidiform mole (CHM): This type arises when an egg without a nucleus is fertilized by one or two sperm, leading to the growth of abnormal placental tissue with no embryo. The chromosomes come from the father only, and there are typically 46 chromosomes, all of paternal origin.
* Partial hydatidiform mole (PHM): This type occurs when an egg is fertilized by two sperm or a single sperm that duplicates itself, resulting in an abnormal placenta with some fetal tissue. The chromosomes are of both maternal and paternal origin, and the placental tissue has a mix of normal and abnormal cells.

Hydatidiform moles can cause vaginal bleeding, rapid uterine enlargement, and high levels of human chorionic gonadotropin (hCG) hormone in the blood. They are usually detected during an ultrasound exam and require medical treatment to prevent complications such as gestational trophoblastic neoplasia, a malignant form of GTD that can spread to other organs.

Trisomy is a genetic condition where there is an extra copy of a particular chromosome, resulting in 47 chromosomes instead of the typical 46 in a cell. This usually occurs due to an error in cell division during the development of the egg, sperm, or embryo.

Instead of the normal pair, there are three copies (trisomy) of that chromosome. The most common form of trisomy is Trisomy 21, also known as Down syndrome, where there is an extra copy of chromosome 21. Other forms include Trisomy 13 (Patau syndrome) and Trisomy 18 (Edwards syndrome), which are associated with more severe developmental issues and shorter lifespans.

Trisomy can also occur in a mosaic form, where some cells have the extra chromosome while others do not, leading to varying degrees of symptoms depending on the proportion of affected cells.

Diploidy is a term used in genetics to describe the state of having two sets of chromosomes in each cell. In diploid organisms, one set of chromosomes is inherited from each parent, resulting in a total of 2 sets of chromosomes.

In humans, for example, most cells are diploid and contain 46 chromosomes arranged in 23 pairs. This includes 22 pairs of autosomal chromosomes and one pair of sex chromosomes (XX in females or XY in males). Diploidy is a characteristic feature of many complex organisms, including animals, plants, and fungi.

Diploid cells can undergo a process called meiosis, which results in the formation of haploid cells that contain only one set of chromosomes. These haploid cells can then combine with other haploid cells during fertilization to form a new diploid organism.

Abnormalities in diploidy can lead to genetic disorders, such as Down syndrome, which occurs when an individual has three copies of chromosome 21 instead of the typical two. This extra copy of the chromosome can result in developmental delays and intellectual disabilities.

Chromosome disorders are a group of genetic conditions caused by abnormalities in the number or structure of chromosomes. Chromosomes are thread-like structures located in the nucleus of cells that contain most of the body's genetic material, which is composed of DNA and proteins. Normally, humans have 23 pairs of chromosomes, for a total of 46 chromosomes.

Chromosome disorders can result from changes in the number of chromosomes (aneuploidy) or structural abnormalities in one or more chromosomes. Some common examples of chromosome disorders include:

1. Down syndrome: a condition caused by an extra copy of chromosome 21, resulting in intellectual disability, developmental delays, and distinctive physical features.
2. Turner syndrome: a condition that affects only females and is caused by the absence of all or part of one X chromosome, resulting in short stature, lack of sexual development, and other symptoms.
3. Klinefelter syndrome: a condition that affects only males and is caused by an extra copy of the X chromosome, resulting in tall stature, infertility, and other symptoms.
4. Cri-du-chat syndrome: a condition caused by a deletion of part of the short arm of chromosome 5, resulting in intellectual disability, developmental delays, and a distinctive cat-like cry.
5. Fragile X syndrome: a condition caused by a mutation in the FMR1 gene on the X chromosome, resulting in intellectual disability, behavioral problems, and physical symptoms.

Chromosome disorders can be diagnosed through various genetic tests, such as karyotyping, chromosomal microarray analysis (CMA), or fluorescence in situ hybridization (FISH). Treatment for these conditions depends on the specific disorder and its associated symptoms and may include medical interventions, therapies, and educational support.

'Equisetum' is the medical term for a genus of vascular plants also known as horsetails. These plants are characterized by their jointed, hollow stems and rough, sandpaper-like texture. While some species of Equisetum have been used in traditional medicine, it is important to note that they can also contain toxic compounds and should only be used under the guidance of a medical professional.

Chromosome aberrations refer to structural and numerical changes in the chromosomes that can occur spontaneously or as a result of exposure to mutagenic agents. These changes can affect the genetic material encoded in the chromosomes, leading to various consequences such as developmental abnormalities, cancer, or infertility.

Structural aberrations include deletions, duplications, inversions, translocations, and rings, which result from breaks and rearrangements of chromosome segments. Numerical aberrations involve changes in the number of chromosomes, such as aneuploidy (extra or missing chromosomes) or polyploidy (multiples of a complete set of chromosomes).

Chromosome aberrations can be detected and analyzed using various cytogenetic techniques, including karyotyping, fluorescence in situ hybridization (FISH), and comparative genomic hybridization (CGH). These methods allow for the identification and characterization of chromosomal changes at the molecular level, providing valuable information for genetic counseling, diagnosis, and research.

A zygote is the initial cell formed when a sperm fertilizes an egg, also known as an oocyte. This occurs in the process of human reproduction and marks the beginning of a new genetic identity, containing 46 chromosomes - 23 from the sperm and 23 from the egg. The zygote starts the journey of cell division and growth, eventually developing into a blastocyst, then an embryo, and finally a fetus over the course of pregnancy.

Fetal diseases are medical conditions or abnormalities that affect a fetus during pregnancy. These diseases can be caused by genetic factors, environmental influences, or a combination of both. They can range from mild to severe and may impact various organ systems in the developing fetus. Examples of fetal diseases include congenital heart defects, neural tube defects, chromosomal abnormalities such as Down syndrome, and infectious diseases such as toxoplasmosis or rubella. Fetal diseases can be diagnosed through prenatal testing, including ultrasound, amniocentesis, and chorionic villus sampling. Treatment options may include medication, surgery, or delivery of the fetus, depending on the nature and severity of the disease.

Spontaneous abortion, also known as miscarriage, is the unintentional expulsion of a nonviable fetus from the uterus before the 20th week of gestation. It is a common complication of early pregnancy, with most miscarriages occurring during the first trimester. Spontaneous abortion can have various causes, including chromosomal abnormalities, maternal health conditions, infections, hormonal imbalances, and structural issues of the uterus or cervix. In many cases, the exact cause may remain unknown.

The symptoms of spontaneous abortion can vary but often include vaginal bleeding, which may range from light spotting to heavy bleeding; abdominal pain or cramping; and the passing of tissue or clots from the vagina. While some miscarriages occur suddenly and are immediately noticeable, others may progress slowly over several days or even weeks.

In medical practice, healthcare providers often use specific terminology to describe different stages and types of spontaneous abortion. For example:

* Threatened abortion: Vaginal bleeding during early pregnancy, but the cervix remains closed, and there is no evidence of fetal demise or passing of tissue.
* Inevitable abortion: Vaginal bleeding with an open cervix, indicating that a miscarriage is imminent or already in progress.
* Incomplete abortion: The expulsion of some but not all products of conception from the uterus, requiring medical intervention to remove any remaining tissue.
* Complete abortion: The successful passage of all products of conception from the uterus, often confirmed through an ultrasound or pelvic examination.
* Missed abortion: The death of a fetus in the uterus without any expulsion of the products of conception, which may be discovered during routine prenatal care.
* Septic abortion: A rare and life-threatening complication of spontaneous abortion characterized by infection of the products of conception and the surrounding tissues, requiring prompt medical attention and antibiotic treatment.

Healthcare providers typically monitor patients who experience a spontaneous abortion to ensure that all products of conception have been expelled and that there are no complications, such as infection or excessive bleeding. In some cases, medication or surgical intervention may be necessary to remove any remaining tissue or address other issues related to the miscarriage. Counseling and support services are often available for individuals and couples who experience a spontaneous abortion, as they may face emotional challenges and concerns about future pregnancies.

Human chromosome pair 13 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.

Chromosomes carry genetic information in the form of genes, which are sequences of DNA that code for specific traits and functions. Human cells typically have 23 pairs of chromosomes, for a total of 46 chromosomes. Chromosome pair 13 is one of the autosomal pairs, meaning it is not a sex chromosome (X or Y).

Chromosome pair 13 contains several important genes that are associated with various genetic disorders, such as cri-du-chat syndrome and Phelan-McDermid syndrome. Cri-du-chat syndrome is caused by a deletion of the short arm of chromosome 13 (13p), resulting in distinctive cat-like crying sounds in infants, developmental delays, and intellectual disabilities. Phelan-McDermid syndrome is caused by a deletion or mutation of the terminal end of the long arm of chromosome 13 (13q), leading to developmental delays, intellectual disability, absent or delayed speech, and autistic behaviors.

It's important to note that while some genetic disorders are associated with specific chromosomal abnormalities, many factors can contribute to the development and expression of these conditions, including environmental influences and interactions between multiple genes.

Ploidy is a term used in genetics to describe the number of sets of chromosomes in a cell or an organism. The ploidy level can have important implications for genetic inheritance and expression, as well as for evolutionary processes such as speciation and hybridization.

In most animals, including humans, the normal ploidy level is diploid, meaning that each cell contains two sets of chromosomes - one set inherited from each parent. However, there are also many examples of polyploidy, in which an organism has more than two sets of chromosomes.

Polyploidy can arise through various mechanisms, such as genome duplication or hybridization between different species. In some cases, polyploidy may confer evolutionary advantages, such as increased genetic diversity and adaptability to new environments. However, it can also lead to reproductive isolation and the formation of new species.

In plants, polyploidy is relatively common and has played a significant role in their evolution and diversification. Many crop plants are polyploids, including wheat, cotton, and tobacco. In some cases, artificial induction of polyploidy has been used to create new varieties with desirable traits for agriculture and horticulture.

Overall, ploidy is an important concept in genetics and evolution, with implications for a wide range of biological processes and phenomena.

Karyotyping is a medical laboratory test used to study the chromosomes in a cell. It involves obtaining a sample of cells from a patient, usually from blood or bone marrow, and then staining the chromosomes so they can be easily seen under a microscope. The chromosomes are then arranged in pairs based on their size, shape, and other features to create a karyotype. This visual representation allows for the identification and analysis of any chromosomal abnormalities, such as extra or missing chromosomes, or structural changes like translocations or inversions. These abnormalities can provide important information about genetic disorders, diseases, and developmental problems.

Pregnancy is a physiological state or condition where a fertilized egg (zygote) successfully implants and grows in the uterus of a woman, leading to the development of an embryo and finally a fetus. This process typically spans approximately 40 weeks, divided into three trimesters, and culminates in childbirth. Throughout this period, numerous hormonal and physical changes occur to support the growing offspring, including uterine enlargement, breast development, and various maternal adaptations to ensure the fetus's optimal growth and well-being.

Human chromosome pair 18 consists of two rod-shaped structures present in the nucleus of each cell of the human body. Chromosomes are made up of DNA, protein, and RNA, and they carry genetic information that determines an individual's physical characteristics, biochemical processes, and susceptibility to disease.

Chromosome pair 18 is one of the 23 pairs of chromosomes that make up the human genome. Each member of chromosome pair 18 has a length of about 75 million base pairs and contains around 600 genes. Chromosome pair 18 is also known as the "smart chromosome" because it contains many genes involved in brain development, function, and cognition.

Abnormalities in chromosome pair 18 can lead to genetic disorders such as Edwards syndrome (trisomy 18), in which there is an extra copy of chromosome 18, or deletion of a portion of the chromosome, leading to various developmental and cognitive impairments.

Uterine neoplasms refer to abnormal growths in the uterus, which can be benign (non-cancerous) or malignant (cancerous). These growths can originate from different types of cells within the uterus, leading to various types of uterine neoplasms. The two main categories of uterine neoplasms are endometrial neoplasms and uterine sarcomas.

Endometrial neoplasms develop from the endometrium, which is the inner lining of the uterus. Most endometrial neoplasms are classified as endometrioid adenocarcinomas, arising from glandular cells in the endometrium. Other types include serous carcinoma, clear cell carcinoma, and mucinous carcinoma.

Uterine sarcomas, on the other hand, are less common and originate from the connective tissue (stroma) or muscle (myometrium) of the uterus. Uterine sarcomas can be further divided into several subtypes, such as leiomyosarcoma, endometrial stromal sarcoma, and undifferentiated uterine sarcoma.

Uterine neoplasms can cause various symptoms, including abnormal vaginal bleeding or discharge, pelvic pain, and difficulty urinating or having bowel movements. The diagnosis typically involves a combination of imaging tests (such as ultrasound, CT, or MRI scans) and tissue biopsies to determine the type and extent of the neoplasm. Treatment options depend on the type, stage, and patient's overall health but may include surgery, radiation therapy, chemotherapy, or hormone therapy.

Prenatal ultrasonography, also known as obstetric ultrasound, is a medical diagnostic procedure that uses high-frequency sound waves to create images of the developing fetus, placenta, and amniotic fluid inside the uterus. It is a non-invasive and painless test that is widely used during pregnancy to monitor the growth and development of the fetus, detect any potential abnormalities or complications, and determine the due date.

During the procedure, a transducer (a small handheld device) is placed on the mother's abdomen and moved around to capture images from different angles. The sound waves travel through the mother's body and bounce back off the fetus, producing echoes that are then converted into electrical signals and displayed as images on a screen.

Prenatal ultrasonography can be performed at various stages of pregnancy, including early pregnancy to confirm the pregnancy and detect the number of fetuses, mid-pregnancy to assess the growth and development of the fetus, and late pregnancy to evaluate the position of the fetus and determine if it is head down or breech. It can also be used to guide invasive procedures such as amniocentesis or chorionic villus sampling.

Overall, prenatal ultrasonography is a valuable tool in modern obstetrics that helps ensure the health and well-being of both the mother and the developing fetus.

Prenatal diagnosis is the medical testing of fetuses, embryos, or pregnant women to detect the presence or absence of certain genetic disorders or birth defects. These tests can be performed through various methods such as chorionic villus sampling (CVS), amniocentesis, or ultrasound. The goal of prenatal diagnosis is to provide early information about the health of the fetus so that parents and healthcare providers can make informed decisions about pregnancy management and newborn care. It allows for early intervention, treatment, or planning for the child's needs after birth.

Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is characterized by intellectual and developmental disabilities, distinctive facial features, and sometimes physical growth delays and health problems. The condition affects approximately one in every 700 babies born in the United States.

Individuals with Down syndrome have varying degrees of cognitive impairment, ranging from mild to moderate or severe. They may also have delayed development, including late walking and talking, and may require additional support and education services throughout their lives.

People with Down syndrome are at increased risk for certain health conditions, such as congenital heart defects, respiratory infections, hearing loss, vision problems, gastrointestinal issues, and thyroid disorders. However, many individuals with Down syndrome live healthy and fulfilling lives with appropriate medical care and support.

The condition is named after John Langdon Down, an English physician who first described the syndrome in 1866.

The first trimester of pregnancy is defined as the period of gestational development that extends from conception (fertilization of the egg by sperm) to the end of the 13th week. This critical phase marks significant transformations in both the mother's body and the growing embryo/fetus.

During the first trimester, the fertilized egg implants into the uterine lining (implantation), initiating a series of complex interactions leading to the formation of the placenta - an organ essential for providing nutrients and oxygen to the developing fetus while removing waste products. Simultaneously, the embryo undergoes rapid cell division and differentiation, giving rise to various organs and systems. By the end of the first trimester, most major structures are present, although they continue to mature and grow throughout pregnancy.

The mother may experience several physiological changes during this time, including:
- Morning sickness (nausea and vomiting)
- Fatigue
- Breast tenderness
- Frequent urination
- Food aversions or cravings
- Mood swings

Additionally, hormonal shifts can cause various symptoms and prepare the body for potential changes in lactation, posture, and pelvic alignment as pregnancy progresses. Regular prenatal care is crucial during this period to monitor both maternal and fetal wellbeing, identify any potential complications early on, and provide appropriate guidance and support throughout the pregnancy.

Aneuploidy is a medical term that refers to an abnormal number of chromosomes in a cell. Chromosomes are thread-like structures located inside the nucleus of cells that contain genetic information in the form of genes.

In humans, the normal number of chromosomes in a cell is 46, arranged in 23 pairs. Aneuploidy occurs when there is an extra or missing chromosome in one or more of these pairs. For example, Down syndrome is a condition that results from an extra copy of chromosome 21, also known as trisomy 21.

Aneuploidy can arise during the formation of gametes (sperm or egg cells) due to errors in the process of cell division called meiosis. These errors can result in eggs or sperm with an abnormal number of chromosomes, which can then lead to aneuploidy in the resulting embryo.

Aneuploidy is a significant cause of birth defects and miscarriages. The severity of the condition depends on which chromosomes are affected and the extent of the abnormality. In some cases, aneuploidy may have no noticeable effects, while in others it can lead to serious health problems or developmental delays.

Gestational age is the length of time that has passed since the first day of the last menstrual period (LMP) in pregnant women. It is the standard unit used to estimate the age of a pregnancy and is typically expressed in weeks. This measure is used because the exact date of conception is often not known, but the start of the last menstrual period is usually easier to recall.

It's important to note that since ovulation typically occurs around two weeks after the start of the LMP, gestational age is approximately two weeks longer than fetal age, which is the actual time elapsed since conception. Medical professionals use both gestational and fetal age to track the development and growth of the fetus during pregnancy.

Spermatozoa are the male reproductive cells, or gametes, that are produced in the testes. They are microscopic, flagellated (tail-equipped) cells that are highly specialized for fertilization. A spermatozoon consists of a head, neck, and tail. The head contains the genetic material within the nucleus, covered by a cap-like structure called the acrosome which contains enzymes to help the sperm penetrate the female's egg (ovum). The long, thin tail propels the sperm forward through fluid, such as semen, enabling its journey towards the egg for fertilization.

Microsatellite repeats, also known as short tandem repeats (STRs), are repetitive DNA sequences made up of units of 1-6 base pairs that are repeated in a head-to-tail manner. These repeats are spread throughout the human genome and are highly polymorphic, meaning they can have different numbers of repeat units in different individuals.

Microsatellites are useful as genetic markers because of their high degree of variability. They are commonly used in forensic science to identify individuals, in genealogy to trace ancestry, and in medical research to study genetic diseases and disorders. Mutations in microsatellite repeats have been associated with various neurological conditions, including Huntington's disease and fragile X syndrome.

Lesley, J.W.; Mann, Margaret C. (1925). "Triploidy in the Tomato". American Association for the Advancement of Science. 61 ( ...
A report of the characteristics of Triploidy syndrome reflects his interest in Semiology and medical students - the medical ... Wertelecki, W; Graham Jr, J. M; Sergovich, F. R (1976). "The clinical syndrome of triploidy". Obstetrics and Gynecology. 47 (1 ... Wertelecki, Wladimir; Graham, JOHN M. Jr; Sergovich, Fred R. (January 1976). "The Clinical Syndrome of Triploidy". Obstetrics ...
Most embryos with triploidy miscarry early in development. Many organ systems are affected by triploidy, but the central ... Triploidy affects approximately 1-2% of pregnancies, but most miscarry early in development. At birth, males with triploidy are ... As there is no treatment for triploidy, palliative care is given if a baby survives to birth. If triploidy is diagnosed during ... A sample of amniotic fluid can also be tested to diagnose triploidy.[medical citation needed] Most fetuses with triploidy do ...
Triploidy may be the result of either digyny (the extra haploid set is from the mother) or diandry (the extra haploid set is ... Triploidy is also utilized in salmon and trout farming to induce sterility. Rarely, autopolyploids arise from spontaneous, ... There has been one report of a child surviving to the age of seven months with complete triploidy syndrome. He failed to ... "Triploidy". National Organization for Rare Disorders. Retrieved 2018-12-23. Baker P, Monga A, Baker P (2006). Gynaecology by ...
"Apparent triploidy in the unisexual brahminy blind snake, Ramphotyphlops braminus. American Museum Novitates no. 2868." (1987 ...
Wynn, Addison H.; Cole, Charles J.; Gardner, Alfred L. (12 March 1987). "Apparent Triploidy in the Unisexual Brahminy Blind ...
Krieger, M.J.B.; Ross, K.G.; Chang, C..W.Y.; Keller, L. (1999). "Frequency and origin of triploidy in the fire ant Solenopsis ... Triploidy (a chromosomal abnormality) occurs in red imported fire ants at high rates (as high as 12% in non-reproductive ...
Ovule Stewart-Cox JA, Britton NF, Mogie M (August 2004). "Endosperm triploidy has a selective advantage during ongoing parental ...
DeSmedt's second and third novels in the series are Dualism (2014) and Triploidy (2022). On Barnes & Noble's science fiction ...
Triploidy is distinct from trisomy, in which only one chromosome exists in three pairs. A well-known example of trisomy is ...
Polyploidy is rare, with nearly all species being diploid and only occasional reports of triploidy. Reported genome size in ...
Typically, this results when one twin has either triploidy or complete paternal uniparental disomy, resulting in little or no ... In 2003, a study argued that many cases of triploidy arise from sesquizygotic (semi-identical) twinning. The degree of ...
Joly, Simon; Anne Bruneau (2004). "Evolution of Triploidy in Apios americana (Leguminosae) Revealed by Genealogical Analysis of ...
Banana breeding impeded by triploidy Banana cultivar groups Cooking plantain Grand Nain (Chiquita banana) Marin, Douglas H.; ...
Because of this, triploidy is commonly exploited in agriculture to produce seedless fruit such as bananas and watermelons. If ...
Similar to triploidy, another form of genetic control is Trojan Y which serves as a sex-marker identification and aims to bias ... Triploidy also exists to manage invasive species through the production of sterile males to biologically control insect pests. ...
In certain species, colchicine-induced triploidy has been used to create "seedless" fruit, such as seedless watermelons ( ...
The possibility of fertile triploids is one of the major short-falls of triploidy being used as a means of bio-containment for ... However, it is estimated that 1.1% of eggs remain diploid, and therefore capable of breeding, despite the triploidy process. ... give triploidy frequencies of only 99.8%, 97.6%, and 97.0%, respectively. AquaBounty also emphasizes that their GM salmon would ... retention in GH-transgenic coho salmon being assessed for reproductive containment by pressure-shock-induced triploidy". ...
TRIPLOIDY IN YELLOWTAIL TETRA, ASTYANAX ALTIPARANAE". Journal of the World Aquaculture Society. 48 (5): 741-750. doi:10.1111/ ...
Other chromosomal abnormalities that can lead to DWM include triploidy, Patau syndrome (trisomy 13), trisomy 9 and partial 3q ...
Natural triploidy in phyto-oestrogen producing Curcuma species and cultivars from Thailand. Euphytica 208: 47-61. DOI: 10.1007/ ...
Angus, Robert B.; Jia, Fenglong (2020-01-13). "Triploidy in Chinese parthenogenetic Helophorus orientalis Motschulsky, 1860, ...
... triploidy (6-8%), tetraploidy (2-4%), or other structural chromosomal abnormalities (2%). Genetic problems are more likely to ...
... favorable neuroblastoma with near triploidy and a predominance of numerical gains and losses, mostly representing non- ...
... bifida Spinal dysraphism Syndactyly Tetralogy of Fallot Thanatophoric dwarfism Transposition of the great vessels Triploidy ...
... polysyndactyly syndrome Triphalangeal thumbs brachyectrodactyly Triple A syndrome Triplo X Syndrome Triploid Syndrome Triploidy ...
Triploidy Structural abnormality of the chromosome Double or triple trisomy Uterine structural abnormalities Uterine fibroids ...
Induction of triploidy by treatment of eggs renders the fish sterile, reducing the risk of interbreeding with wild-type fish if ...
... triploidy, trisomy 16 mosaicism, fetal death, Smith-Lemli-Opitz syndrome, and steroid sulfatase deficiency. The triple test ...
Single nucleotide polymorphism (SNP) NIPT can also detect Triploidy and can differentiate between maternal and "fetal" DNA ...
Production of triploidy in Gasterosteus aculeatus (L) J Genet. 1959;56:129-141. doi: 10.1007/BF02984740. Cold-shock eliminates ...
DNA studies of the obtained Carassius auratus langsdorfii revealed that all fish were triploidy females or tetraploidy females ...
Triploidy and mosaicism in Liolaemus chiliensis (Sauria: Tropiduridae) Raúl Araya-Donoso, David Véliz, Marcela Vidal, and ...
Triploidy (having three sets of chromosomes), tetraploidy (four sets of chromosomes) and pentaploidy (five sets of chromosomes ...
Fakharzadeh, F.; J. Darvish; H.G. Kami; F. Ghassemzadeh; E. Rastegar-Pouyani; M. Stöck (2015). "Discovery of triploidy in ...
Filed Under: Personal Tagged With: blighted ovum, loss, miscarriage, missed miscarriage, pregnancy loss, Pro life, triploidy, ...
Copyright © 2023 Genetic Engineering & Biotechnology News. All Rights Reserved ...
Overcoming Triploidy, Hodgkins Lymphoma, & Chemo for a Natural Childbirth August 23, 2016 ...
Triploidy and tetraploidy are related to abnormal fertilization and are not compatible with life. Triploidy is found in 16% of ...
Hypertension is the most common medical problem encountered during pregnancy, complicating 2-3% of pregnancies. Hypertensive disorders during pregnancy are classified into 4 categories, as recommended by the National High Blood Pressure Education Program Working Group on High Blood Pressure in Pregnancy: Chronic hypertension Preeclampsia-ecla...
Lesley, J.W.; Mann, Margaret C. (1925). "Triploidy in the Tomato". American Association for the Advancement of Science. 61 ( ...
... Author: Wagner ... First-trimester screening for trisomies 18 and 13, triploidy and Turner syndrome by detailed early anomaly scan. DSpace ...
Triploidy is not compatible with long-term survival, and affected liveborn infants usually die within a few days of delivery. ... Triploidy is not compatible with long-term survival, and affected liveborn infants usually die within a few days of delivery. ... Triploidy is not compatible with long-term survival, and affected liveborn infants usually die within a few days of delivery. ... Triploidy is not compatible with long-term survival, and affected liveborn infants usually die within a few days of delivery. ...
Gonadal pathology in triploidy. McFadden DE, Pantzar JT, Jevon GP. McFadden DE, et al. Pediatr Dev Pathol. 2000 Nov-Dec;3(6): ... Placental pathology of triploidy. McFadden DE, Pantzar JT. McFadden DE, et al. Hum Pathol. 1996 Oct;27(10):1018-20. doi: ... Maternal serum screening in triploidy. McFadden DE, Hulait G, Lockitch G, Langlois S. McFadden DE, et al. Prenat Diagn. 2002 ... Dispermy--origin of diandric triploidy: brief communication. McFadden DE, Jiang R, Langlois S, Robinson WP. McFadden DE, et al. ...
Triploidy-Observations in 154 Diandric Cases. Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avis ... utility for prenatal diagnosis of parental origin in human triploidy. Publikation: Bidrag til tidsskrift/Konferencebidrag i ...
Triploidy. Her tiny heart beat for only an hour but her life continues within me. She gives me strength and compassion. She ...
TheFetus.net website was created with the goal of sharing experiences in prenatal diagnosis to enrich the practitioners knowledge worldwide. Since the first case of the week was published in May 1999, we have become an international community that works together to improve healthcare across the globe. We appreciate support of any kind so we can continue to pursue this vision for many years to come. TheFetus.net is registered as a 501(c)3 non-profit organization with the United States Internal Revenue Service and your donations are tax deductible. TheFetus.net is generously supported by donations from the Thomas Nelson Abdella MD Foundation, which strives to support education in maternal fetal medicine. ...
triploidy. *trisomy 13. *trisomy 16 (full). *trisomy 18. *trisomy 22. *A profound and irremediable congenital or chromosomal ...
TheFetus.net website was created with the goal of sharing experiences in prenatal diagnosis to enrich the practitioners knowledge worldwide. Since the first case of the week was published in May 1999, we have become an international community that works together to improve healthcare across the globe. We appreciate support of any kind so we can continue to pursue this vision for many years to come. TheFetus.net is registered as a 501(c)3 non-profit organization with the United States Internal Revenue Service and your donations are tax deductible. TheFetus.net is generously supported by donations from the Thomas Nelson Abdella MD Foundation, which strives to support education in maternal fetal medicine. ...
Triploidy Our precious daughter I am sorry we had to let you go.You were incompatible with life. We love you so much and always ... Triploidy. Little angel baby, we hope you understand why we made the decision we did -- we just did not want you to suffer for ... Triploidy. Our precious baby girl. You are so loved and greatly missed. We will forever treasure the short time we had to hold ...
Triploidy in a nurse shark (Ginglymostoma cirratum). Copeia 1994(3):825-827.. Anderson, M. A., C. T. Amemiya, C. A. Luer, R. T ...
Triploidy. Detected (with SNP analysis). Not detected. Detected. Consanguinity. Detected (with SNP analysis). Not detected. Not ...
Here, we report a case of spontaneous triploidy in a male of the twin-spotted ratsnake (Elaphe bimaculata) with ZZW sex ... Baumer A, Balmer D, Binkert F, Schinzel A: Parental origin and mechanisms of formation of triploidy: a study of 25 cases. Eur J ... Wynn AH, Cole CJ, Gardner AL: Apparent triploidy in the unisexual Brahminy blind snake, Ramphotyphlops braminus. Am Mus Nov ... Application of Restriction Site-Associated DNA Sequencing (RAD-Seq) for Copy Number Variation and Triploidy Detection in Human ...
Triploidy without molar change presenting as severe pre-eclampsia and left ventricular failure at 15 weeks. Anev I, Rajasri AG ...
Prenatal Diagnosis of Triploidy in Fetus with Unexpected Chromosomal Translocation of Maternal Origin ...
Recurrent triploidy due to a failure to complete maternal Meiosis II: whole exome sequencing reveals candidate variants (2014) ... Maternal NLRP7 and C6orf221 variants are not a common risk factor for androgenetic moles, triploidy and recurrent miscarriage ( ... Brief Communication Dispermy-origin of diandric triploidy (2002). Human Reproduction, 17 (12), 3037--3038 ... Dispermy-origin of diandric triploidy Brief Communication (2002). Human Reproduction, 17 (12), 3037--3038 ...
Vis forfatter(e) (2018). Changes in water temperature and oxygen: the effect of triploidy on performance and metabolism in ...
... low hypodiploidy/near-triploidy (6%), or tetraploidy (1%). Six percent of patients had an mixed-lineage leukemia rearrangement ... Complex karyotype and hypodiploidy/near triploidy retained their prognostic importance independent of minimal residual disease ...
I had an amnio and the baby was found to have Triploidy... three sets of chromosomes. There was no chance of survival.. I had ... my baby and placenta were sent off to the lab for testing... she had triploidy (3 sets of -69- chromosomes, not the normal 2 ...
Extended survival of a premature infant with a postnatal diagnosis of complete triploidy Rachel Walsh, Anand Sharma ...
It is hoped that inducing the condition, known as Triploidy, will help dwindling wild salmon stocks. ... However, the reproductive effects can vary between individual species, so we will verify whether triploidy completely ... The research project will investigate whether inducing a genetic condition called Triploidy effectively sterilises farmed ...
Triploidy and polyploidy. Q92.8. Other specified trisomies and partial trisomies of autosomes. ...
SNP array can detect polyploidy (e.g., triploidy) which cannot be reliably detected by oligo aCGH as the presence of three ...
The doctors told us triploidy, a child with 69 chromosomes instead of the usual 46, was a fluke chance. We felt blessed to have ...
  • When a diploid sperm fertilizes an ordinary egg, or an ordinary sperm fertilizes a diploid egg, the result is a fetus with 69 chromosomes, that is, triploidy. (practicalmommy.com)
  • Note: A baby with triploidy has one whole chromosome set too many, so a total of 69 chromosomes instead of 46 in each cell. (practicalmommy.com)
  • Fetal development in triploidy is rare. (nih.gov)
  • Elevations of hCG can also occur in multiple pregnancies, singleton pregnancies in which the gestational age has been overestimated, triploidy, fetal loss, and hydrops fetalis . (medscape.com)
  • Triploidy - sounds similar to trisomy, but it is not. (practicalmommy.com)
  • Triploidy, like trisomy, is a genetic defect that leads to severe disabilities, but it is a much more serious genetic defect. (practicalmommy.com)
  • But what is the difference between triploidy and trisomy? (practicalmommy.com)
  • The surveillance system identified 360 resident NTD-affected births/terminations (cases) not otherwise accompanied by a known trisomy, triploidy, or syndrome (e.g. (cdc.gov)
  • includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc. (bvsalud.org)
  • Although triploidy can be associated with numerous anomalies, such as early IUGR, cephalocorporal disproportion, and oligohydramnios, no one anomaly can be seen on ultrasonography that is pathognomonic. (johnshopkins.edu)
  • Recently, attention has been given to the antepartum diagnosis of those fetuses with triploidy who survive past the first trimester. (johnshopkins.edu)
  • Triploidy fetuses frequently have facial deformities-cleft palates, malformed craniums, eyes with lids that never split. (mrbullbull.com)
  • Used throughout the world, the TRC-APVM is a unique stainless steel device that, via pressure shock, allows for the controlled induction of triploidy in fish eggs. (annexbusinessmedia.com)
  • Indeed, triploidy is the most efficient ploidy level for the agronomic performance in banana. (labmanager.com)
  • Babies with triploidy have not only one chromosome too many, but 23, i.e. one whole chromosome set too many. (practicalmommy.com)
  • Triploidy, the tripling of all chromosome pairs, is not an uncommon thing. (mrbullbull.com)
  • Therefore, triploidy is one of the most common chromosomal abnormalities during conception. (practicalmommy.com)
  • Triploidy is found in 1% of all conceptuses and accounts for 20% of the chromosomal abnormalities identified in spontaneous abortuses. (johnshopkins.edu)
  • We report second trimester sonographic findings and Doppler flow velocity waveforms in two cases of triploidy. (johnshopkins.edu)
  • What is rare is for Triploidy babies to survive as long as Clem did. (mrbullbull.com)
  • Most pregnancies with triploidy end in miscarriage . (practicalmommy.com)
  • Although triploidy occurs in only 1-2% of all pregnancies, it is one of the most common causes of miscarriage. (practicalmommy.com)
  • So if you once had a miscarriage that was affected by triploidy, it doesn't mean it will happen again in the future. (practicalmommy.com)
  • This is called triploidy and represents an anomaly that usually results in a miscarriage. (encyclopedia.com)
  • Usually, these are one-time tragedies and the likelihood of triploidy occurring again in subsequent pregnancies is extremely low. (practicalmommy.com)
  • 1-2% of all pregnancies are affected by triploidy. (practicalmommy.com)
  • To overcome the bottleneck, production of sterile fish through triploidy and other molecular techniques have been suggested and attempted. (nofima.no)
  • The unique genetic features of CHMs (androgenetic diploidy), PHMs (diandric triploidy), and nonmolar specimens (biparental diploidy) allow for certain molecular techniques, including immunohistochemical analysis of p57 expression (a paternally imprinted maternally expressed gene) and molecular genotyping, to refine the diagnosis of hydatidiform moles. (johnshopkins.edu)
  • Experts distinguish three forms of triploidy in humans. (practicalmommy.com)
  • Triploidy in humans are 69XXX, 69XXY, and 69XYY. (nih.gov)
  • 3. Triploidy identified through second-trimester serum screening. (nih.gov)
  • He added that he believes SNP arrays, as opposed to comparative genomic hybridization arrays, support a "much better analytical approach than quantitative CMA, because it allows the detection of triploidy and uniparental disomy. (genomeweb.com)
  • Triploidy was induced by heat shocking the eggs at 28°C for 20 minutes, starting 10 minutes post-activation. (bvsalud.org)
  • The National Organization for Rare Disorders offers an overview of triploidy . (medlineplus.gov)
  • Until they learn that Persey is suffering from a rare but fatal condition called "triploidy. (billdesmedt.com)
  • Second or third trimester stillbirth also is common, and the neonatal prevalence of triploidy is 1:2500 to 1:10,000 live births. (johnshopkins.edu)
  • I asked my RE's nurse to email the results and spent all of last night learning about Triploidy, 69 XXX. (stephaniebrooker.com)
  • Triploidy is not compatible with long-term survival, and affected liveborn infants usually die within a few days of delivery. (johnshopkins.edu)
  • However, triploidy does not depend on the age of the parents, and researchers have not found any other identifiable risk factors. (practicalmommy.com)
  • Background: Triploidy is commonly associated with the development of early-onset preeclampsia. (bvsalud.org)
  • Case: A nulliparous patient with a dichorionic twin gestation, recently diagnosed triploidy in one twin, and history of chronic hypertension presented at 18 weeks of gestation with signs and symptoms suggestive of preeclampsia. (bvsalud.org)