98 relations: Amenorrhea, Amniocentesis, Androgen, Aneuploidy, Aortic dissection, Aortic stenosis, Aortic valve, Ascites, Attention deficit hyperactivity disorder, Bicuspid aortic valve, Birth defect, Blood vessel, Bone fracture, Breast, Breast development, Calcification, Chorionic villus sampling, Chromosomal translocation, Chromosome abnormality, Coarctation of the aorta, Combined oral contraceptive pill, Congenital heart defect, Cornea, Cubitus valgus, Cystic hygroma, Cytogenetic notation, Dermatoglyphics, Diabetes mellitus, Diabetes mellitus type 1, Diabetes mellitus type 2, Edema, Endocrinology, Endocrinology (journal), Estrogen, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Female, Food and Drug Administration, Genetic testing, Glaucoma, Gonadal dysgenesis, Growth hormone, Guy's Hospital, Harwell, Oxfordshire, Hashimoto's thyroiditis, Heart, Henry Turner (endocrinologist), Heredity, Hormone replacement therapy, Hormone therapy, Horseshoe kidney, ..., Hypertension, Hypoplastic left heart syndrome, Hypothyroidism, In vitro fertilisation, Infantilism (physiological disorder), Infertility, Intellectual disability, Isochromosome, Karyotype, Klinefelter syndrome, Life expectancy, Locus (genetics), London, Low-set ears, Lymphedema, Marfan syndrome, Mathematics, Medical genetics, Meiosis, Melanocytic nevus, Mesenchymal stem cell, Metacarpal bones, Micrognathism, Miscarriage, Monosomy, Mosaic (genetics), Nondisjunction, Nonverbal learning disorder, Noonan syndrome, Oocyte, Osteoporosis, Pediatrics, Pseudoautosomal region, Ptosis (eyelid), Reproductive technology, Ring chromosome, Sclera, Scoliosis, Sex chromosome, Short stature, Spatial visualization ability, Stenosis, Subclavian artery, Triple X syndrome, Ultrasound, Webbed neck, X chromosome, XYY syndrome. Expand index (48 more) » « Shrink index
Amenorrhoea is the absence of a menstrual period in a woman of reproductive age.
Amniocentesis (also referred to as amniotic fluid test or AFT) is a medical procedure used in prenatal diagnosis of chromosomal abnormalities and fetal infections, and also for sex determination, in which a small amount of amniotic fluid, which contains fetal tissues, is sampled from the amniotic sac surrounding a developing fetus, and then the fetal DNA is examined for genetic abnormalities.
An androgen (from Greek andr-, the stem of the word meaning "man") is any natural or synthetic steroid hormone which regulates the development and maintenance of male characteristics in vertebrates by binding to androgen receptors.
Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example a human cell having 45 or 47 chromosomes instead of the usual 46.
Aortic dissection (AD) occurs when an injury to the innermost layer of the aorta allows blood to flow between the layers of the aortic wall, forcing the layers apart.
Aortic stenosis (AS or AoS) is the narrowing of the exit of the left ventricle of the heart (where the aorta begins), such that problems result.
The aortic valve is a valve in the human heart between the left ventricle and the aorta.
Ascites is the abnormal buildup of fluid in the abdomen.
Attention-deficit hyperactivity disorder (ADHD) is a mental disorder of the neurodevelopmental type.
Bicuspid aortic valve (BAV) is an inherited form of heart disease in which two of the leaflets of the aortic valve fuse during development in the womb resulting in a two-leaflet valve (bicuspid valve) instead of the normal three-leaflet valve (tricuspid).
A birth defect, also known as a congenital disorder, is a condition present at birth regardless of its cause.
The blood vessels are the part of the circulatory system, and microcirculation, that transports blood throughout the human body.
A bone fracture (sometimes abbreviated FRX or Fx, Fx, or #) is a medical condition in which there is a partial or complete break in the continuity of the bone.
The breast is one of two prominences located on the upper ventral region of the torso of primates.
Breast development, also known as mammogenesis, is a complex biological process in primates that takes place throughout a female's life.
Calcification is the accumulation of calcium salts in a body tissue.
Chorionic villus sampling (CVS), sometimes called "chorionic villous sampling" (as "villous" is the adjectival form of the word "villus"), is a form of prenatal diagnosis to determine chromosomal or genetic disorders in the fetus.
In genetics, a chromosome translocation is a chromosome abnormality caused by rearrangement of parts between nonhomologous chromosomes.
A chromosome abnormality, disorder, anomaly, aberration, or mutation is a missing, extra, or irregular portion of chromosomal DNA.
Coarctation of the aorta (CoA or CoAo), also called aortic narrowing, is a congenital condition whereby the aorta is narrow, usually in the area where the ductus arteriosus (ligamentum arteriosum after regression) inserts.
The combined oral contraceptive pill (COCP), often referred to as the birth control pill or colloquially as "the pill", is a type of birth control that is designed to be taken orally by women.
A congenital heart defect (CHD), also known as a congenital heart anomaly or congenital heart disease, is a problem in the structure of the heart that is present at birth.
The cornea is the transparent front part of the eye that covers the iris, pupil, and anterior chamber.
Cubitus valgus is a medical deformity in which the forearm is angled away from the body to a greater degree than normal when fully extended.
A cystic hygroma is an abnormal growth that usually appears on a baby's neck or head. It consists of one or more cysts and tends to grow larger over time. The disorder usually develops while the baby is still in the womb, but can also appear after birth. Also known as cystic lymphangioma and macrocystic lymphatic malformation, the growth is often a congenital lymphatic lesion of many small cavities (multiloculated) that can arise anywhere, but is classically found in the left posterior triangle of the neck and armpits. This is the most common form of lymphangioma. The malformation contains large cyst-like cavities containing lymph, a watery fluid that circulates throughout the lymphatic system. Microscopically, cystic hygroma consists of multiple locules filled with lymph. Deep locules are quite big, but they decrease in size towards the surface. Cystic hygromas are benign, but can be disfiguring. It is a condition which usually affects children; very rarely it can be present in adulthood. Cystic hygroma is also known as lymphatic malformation. Currently, the medical field prefers to use the term lymphatic malformation because the term cystic hygroma means water tumor. Lymphatic malformation is more commonly used now because it is a sponge-like collection of abnormal growth that contains clear lymphatic fluid. The fluid collects within the cysts or channels, usually in the soft tissue. Cystic hygromas occur when the lymphatic vessels that make up the lymphatic system are not formed properly. There are two types of lymphatic malformations. They are macrocystic lymphatic malformations, large cysts, and microcystic, small cysts. A person may have only one kind of the malformation or can have a mixture of both macro and micro cysts. Cystic hygroma can be associated with a nuchal lymphangioma or a fetal hydrops. Additionally, it can be associated with Turner syndrome or with Noonan syndrome. A lethal version of this condition is known as Cowchock Wapner Kurtz syndrome that, in addition to cystic hygroma, includes cleft palate and lymphedema, a condition of localized edema and tissue swelling caused by a compromised lymphatic system.
The following table summarizes symbols and abbreviations used in cytogenetics.
Dermatoglyphics (from Ancient Greek derma, "skin", and glyph, "carving") is the scientific study of fingerprints, lines, mounts and shapes of hands.
Diabetes mellitus (DM), commonly referred to as diabetes, is a group of metabolic disorders in which there are high blood sugar levels over a prolonged period.
Diabetes mellitus type 1, also known as type 1 diabetes, is a form of diabetes mellitus in which not enough insulin is produced.
Diabetes mellitus type 2 (also known as type 2 diabetes) is a long-term metabolic disorder that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.
Edema, also spelled oedema or œdema, is an abnormal accumulation of fluid in the interstitium, located beneath the skin and in the cavities of the body, which can cause severe pain.
Endocrinology (from endocrine + -ology) is a branch of biology and medicine dealing with the endocrine system, its diseases, and its specific secretions known as hormones.
Endocrinology is a peer-reviewed scientific journal published by The Endocrine Society.
Estrogen, or oestrogen, is the primary female sex hormone.
The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) is one of the National Institutes of Health (NIH) in the United States Department of Health and Human Services.
Female (♀) is the sex of an organism, or a part of an organism, that produces non-mobile ova (egg cells).
The Food and Drug Administration (FDA or USFDA) is a federal agency of the United States Department of Health and Human Services, one of the United States federal executive departments.
Genetic testing, also known as DNA testing, allows the determination of bloodlines and the genetic diagnosis of vulnerabilities to inherited diseases.
Glaucoma is a group of eye diseases which result in damage to the optic nerve and vision loss.
Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system in the male or female.
Growth hormone (GH), also known as somatotropin (or as human growth hormone in its human form), is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration in humans and other animals.
Guy's Hospital is an NHS hospital in the borough of Southwark in central London.
Harwell is a village and civil parish in the Vale of White Horse about west of Didcot, roughly east of Wantage and approximately south of Oxford.
Hashimoto's thyroiditis, also known as chronic lymphocytic thyroiditis and Hashimoto's disease, is an autoimmune disease in which the thyroid gland is gradually destroyed.
The heart is a muscular organ in most animals, which pumps blood through the blood vessels of the circulatory system.
Henry Hubert Turner (August 28, 1892 – August 4, 1970) was an American endocrinologist, noted for his published description of Turner Syndrome in 1938 at the annual meeting of the Association for the Study of Internal Secretions.
Heredity is the passing on of traits from parents to their offspring, either through asexual reproduction or sexual reproduction, the offspring cells or organisms acquire the genetic information of their parents.
Hormone replacement therapy (HRT) is any form of hormone therapy wherein the patient, in the course of medical treatment, receives hormones, either to supplement a lack of naturally occurring hormones or to substitute other hormones for naturally occurring hormones.
Hormone therapy or hormonal therapy is the use of hormones in medical treatment.
Horseshoe kidney, also known as ren arcuatus (in Latin), renal fusion or super kidney, is a congenital disorder affecting about 1 in 600 people, more common in men.
Hypertension (HTN or HT), also known as high blood pressure (HBP), is a long-term medical condition in which the blood pressure in the arteries is persistently elevated.
Hypoplastic left heart syndrome (HLHS) is a rare congenital heart defect in which the left side of the heart is severely underdeveloped.
Hypothyroidism, also called underactive thyroid or low thyroid, is a disorder of the endocrine system in which the thyroid gland does not produce enough thyroid hormone.
In vitro fertilisation (IVF) is a process of fertilisation where an egg is combined with sperm outside the body, in vitro ("in glass").
In medicine, Infantilism is an obsolete term for various, often unrelated disorders of human development, up to developmental disability, which consist of retention of the physical and/or psychological characteristics of early developmental stages (infant, child) into a relatively advanced age.
Infertility is the inability of a person, animal or plant to reproduce by natural means.
Intellectual disability (ID), also known as general learning disability, and mental retardation (MR), is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning.
An isochromosome is an unbalanced structural abnormality in which the arms of the chromosome are mirror images of each other.
A karyotype is the number and appearance of chromosomes in the nucleus of a eukaryotic cell.
Klinefelter syndrome (KS) also known as 47,XXY or XXY, is the set of symptoms that result from two or more X chromosomes in males.
Life expectancy is a statistical measure of the average time an organism is expected to live, based on the year of its birth, its current age and other demographic factors including gender.
A locus (plural loci) in genetics is a fixed position on a chromosome, like the position of a gene or a marker (genetic marker).
London is the capital and most populous city of England and the United Kingdom.
Low-set ears are ears with depressed positioning of the pinnae two or more standard deviations below the population average.
Lymphedema, also known as lymphoedema and lymphatic edema, is a condition of localized fluid retention and tissue swelling caused by a compromised lymphatic system, which normally returns interstitial fluid to the bloodstream.
Marfan syndrome (MFS) is a genetic disorder of the connective tissue.
Mathematics (from Greek μάθημα máthēma, "knowledge, study, learning") is the study of such topics as quantity, structure, space, and change.
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders.
Meiosis (from Greek μείωσις, meiosis, which means lessening) is a specialized type of cell division that reduces the chromosome number by half, creating four haploid cells, each genetically distinct from the parent cell that gave rise to them.
A melanocytic nevus (also known as nevocytic nevus, nevus-cell nevus and commonly as a mole) is a type of melanocytic tumor that contains nevus cells.
Mesenchymal stem cells are multipotent stromal cells that can differentiate into a variety of cell types, including osteoblasts (bone cells), chondrocytes (cartilage cells), myocytes (muscle cells) and adipocytes (fat cells which give rise to marrow adipose tissue).
In human anatomy, the metacarpal bones or metacarpus, form the intermediate part of the skeletal hand located between the phalanges of the fingers and the carpal bones of the wrist which forms the connection to the forearm.
Micrognathism, also called micrognathia, strawberry chin, hypognathia or hypogthathism, is a condition where the jaw is undersized.
Miscarriage, also known as spontaneous abortion and pregnancy loss, is the natural death of an embryo or fetus before it is able to survive independently.
Monosomy is a form of aneuploidy with the presence of only one chromosome from a pair.
In genetics, a mosaic, or mosaicism, involves the presence of two or more populations of cells with different genotypes in one individual, who has developed from a single fertilized egg.
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate properly during cell division.
Nonverbal learning disorder (also known as nonverbal learning disability, NLD, or NVLD) is a learning disorder characterized by verbal strengths as well as visual-spatial, motor, and social skills difficulties.
Noonan syndrome (NS) is a relatively common autosomal dominant congenital disorder and is named after Jacqueline Noonan, a pediatric cardiologist.
An oocyte, oöcyte, ovocyte, or rarely ocyte, is a female gametocyte or germ cell involved in reproduction.
Osteoporosis is a disease where increased bone weakness increases the risk of a broken bone.
Pediatrics (also spelled paediatrics or pædiatrics) is the branch of medicine that involves the medical care of infants, children, and adolescents.
The pseudoautosomal regions, PAR1, PAR2, are homologous sequences of nucleotides on the X and Y chromosomes.
Ptosis (/ˈtoʊsɪs/) is a drooping or falling of the upper eyelid.
Reproductive technology encompasses all current and anticipated uses of technology in human and animal reproduction, including assisted reproductive technology, contraception and others.
A ring chromosome is an aberrant chromosome whose ends have fused together to form a ring.
The sclera, also known as the white of the eye, is the opaque, fibrous, protective, outer layer of the human eye containing mainly collagen and some elastic fiber.
Scoliosis is a medical condition in which a person's spine has a sideways curve.
An allosome (also referred to as a sex chromosome, heterotypical chromosome, heterochromosome, or idiochromosome) is a chromosome that differs from an ordinary autosome in form, size, and behavior.
Short stature refers to a height of a human being which is below typical.
Spatial visualization ability or visual-spatial ability is the ability to mentally manipulate 2-dimensional and 3-dimensional figures.
A stenosis is an abnormal narrowing in a blood vessel or other tubular organ or structure.
In human anatomy, the subclavian arteries are paired major arteries of the upper thorax, below the clavicle.
Triple X syndrome, also known as trisomy X and 47,XXX, is characterized by the presence of an extra X chromosome in each cell of a female.
Ultrasound is sound waves with frequencies higher than the upper audible limit of human hearing.
A webbed neck, or pterygium colli deformity, is a congenital skin fold that runs along the sides of the neck down to the shoulders.
The X chromosome is one of the two sex-determining chromosomes (allosomes) in many organisms, including mammals (the other is the Y chromosome), and is found in both males and females.
XYY syndrome is a genetic condition in which a male has an extra Y chromosome.
45,X, 45,X karyotype, Bonnevie Ullrich Turner syndrome, Bonnevie-Ullrich syndrome, Bonnevie-Ullrich-Turner syndrome, Bonnevie-Ulrich-Turner Syndrome, Bonnevie-Ulrich-Turner syndrome, Bonnevie-Ulrich-Turner's Syndrome, Bonnevie–Ullrich syndrome, Bonnevie–Ullrich–Turner syndrome, Gonadal dysgenesis Turner type, Karyotype 45,X, Monosomy X, Partial anomalous venous drainage, Ring-X Turner Syndrome, Ring-X Turner syndrome, Single X syndrome, Turner Syndrome, Turner disease, Turner syndrome (Gonadal dysgenesis), Turner's, Turner's Syndrome, Turner's syndrome, Turners Syndrome, Turners syndrome, Ullrich-Turner syndrome, Ulrich-Turner Syndrome, X syndrome, XO syndrome.