Confined placental mosaicism: Confined placental mosaicism (CPM) represents a discrepancy between the chromosomal makeup of the cells in the placenta and the cells in the baby. CPM was first described by Kalousek and Dill in 1983.Trisomy 9William Lakin Turner: William Lakin Turner (25 February 1867 – 21 October 1936) was an English landscape artist.Dyschromatosis symmetrica hereditaria: Dyschromatosis symmetrica hereditaria (also known as "Reticulate acropigmentation of Dohi," and "Symmetrical dyschromatosis of the extremities") is a rare autosomally inherited dermatosis. It is characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities.Cryopyrin-associated periodic syndrome: Cryopyrin-associated periodic syndrome (CAPS) is a spectrum of autoinflammatory syndromes including familial cold autoinflammatory syndrome (FCAS, formerly termed familial cold-induced urticaria), the Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID, also called chronic infantile neurologic cutaneous and articular syndrome or CINCA). They share many clinical features.Genetic imbalance: Genetic imbalance is to describe situation when the genome of a cell or organism has more copies of some genes than other genes due to chromosomal rearrangements or aneuploidy.Pedigree chart: A pedigree chart is a diagram that shows the occurrence and appearance or phenotypes of a particular gene or organism and its ancestors from one generation to the next,pedigree chart Genealogy Glossary - About.com, a part of The New York Times Company.Epicanthic fold: Epicanthic fold (), epicanthal fold, epicanthus, or simply eye fold are names for a skin fold of the upper eyelid, covering the inner corner (medial canthus) of the eye. Other names for this trait include plica palpebronasalis and palpebronasal fold..List of diseases (E): This is a list of diseases starting with the letter "E".Smith–Fineman–Myers syndrome: Smith–Fineman–Myers syndrome (SFMS1), also called X-linked mental retardation-hypotonic facies syndrome 1 (MRXHF1), Carpenter–Waziri syndrome, Chudley–Lowry syndrome, SFMS, Holmes–Gang syndrome and Juberg–Marsidi syndrome (JMS), is a rare X-linked recessive congenital disorder that causes birth defects. This syndrome was named after 3 men, Richard D.Ring chromosome: A ring chromosome is a chromosome whose arms have fused together to form a ring. Ring chromosomes were first discovered by Lilian Vaughan Morgan in 1926.Maternal-fetal medicine: Maternal-fetal medicine (MFM) is the branch of obstetrics that focuses on the medical and surgical management of high-risk pregnancies. Management includes monitoring and treatment including comprehensive ultrasound, chorionic villus sampling, genetic amniocentesis, and fetal surgery or treatment.Polysomy: Polysomy is a condition found in many species, including fungi, plants, insects, and mammals, in which an organism has at least one more chromosome than normal, i.e.National Society of Film Critics Awards 1977: 12th NSFC AwardsPrenatal diagnosis: Prenatal diagnosis or prenatal screening (note that prenatal diagnosis and prenatal screening refer to two different types of tests) is testing for diseases or conditions in a fetus or embryo before it is born. The aim is to detect birth defects such as neural tube defects, Down syndrome, chromosome abnormalities, genetic disorders and other conditions, such as spina bifida, cleft palate, Tay Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, Muscular dystrophy, and fragile X syndrome.PCDHY: PCDH11Y is a gene unique to human males which competes with FOXP2 for the title of the "language gene." PCDH11Y is the gene for making Protocadherin 11Y, a protein that guides the development of nerve cells.Yury VerlinskyGermline STAT 1 Mutation: Interferons induce the formation of two transcriptional activators: gamma-activating factor (GAF) and interferon-stimulated gamma factor 3 (ISGF3). A natural heterozygous germline STAT1 mutation associated with susceptibility to mycobacterial but not viral disease was found in two unrelated patients with unexplained mycobacterial disease.Phenotype microarray: The phenotype microarray approach is a technology for high-throughput phenotyping of cells.Hyperphosphatasia with mental retardation syndrome: Hyperphosphatasia with mental retardation syndrome, HPMRS, also known as Mabry syndrome, has been described in patients recruited on four continents world-wide. Mabry syndrome was confirmed to represent an autosomal recessive syndrome characterized by severe mental retardation, considerably elevated serum levels of alkaline phosphatase, hypoplastic terminal phalanges, and distinct facial features that include: hypertelorism, a broad nasal bridge and a rectangular face.Malformative syndrome: A malformative syndrome (or malformation syndrome) is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics).
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