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In 1998, researchers Laura Mazzanti and Emanuele Cacciari published “Congenital Heart Disease in Patients with Turner’s Syndrome,” hereafter “…
Turner SyndromeTurner’s syndromeHeart Defects Congenital Heart DefectsGenetic DiseasesIn 1938, physician Henry Hubert Turner published “A Syndrome of Infantilism, Congenital Webbed Neck, and Cubitus Valgus,” hereafter “A Syndrome of…
Turner SyndromeNoonan SyndromeFemale Pseudo-Turner SyndromeInfantilism, GenitalGonadotropin-Releasing HormoneHenry Hubert Turner was a physician and researcher who studied hormones and human development in Oklahoma City, Oklahoma, during the twentieth…
Turner SyndromeNoonan SyndromeKlippel-Feil SyndromeEndocrine System DiseasesEndocrine GlandsIn 1959, Charles Edmund Ford and colleagues published “A Sex Chromosome Anomaly in a Case of Gonadal Dysgenesis (Turner’s Syndrome),” hereafter “A…
Turner SyndromeGonadal DysgenesisGonadal Dysgenesis, XOGonadal Dysgenesis, 45, XAbnormalities, Sex ChromosomeAngelman syndrome is a disorder in humans that causes neurological symptoms such as lack of speech, jerky movements, and insomnia. A human cell has…
Angelman syndromeGenomic imprintingHuman chromosome 15--AbnormalitiesHuman chromosome 15Happy Puppet SyndromeDandy-Walker Syndrome is a congenital brain defect in humans characterized by malformations to the cerebellum, the part of the brain that controls…
Dandy, Walter Edward, 1886-1946Walker, A. Earl (Arthur Earl), 1907-1995HydrocephalusBirth DefectsDandy-Walker SyndromeAndrogen Insensitivity Syndrome (AIS) is a human disorder in which an individual's genetic sex (genotype) differs from that individual's observable…
AndrogensAndrogens--PathophysiologyIntersexualityIntersex peopleAndrogen-Insensitivity SyndromeTwin-to-Twin Transfusion Syndrome (TTTS) is a rare placental disease that can occur at any time during pregnancy involving identical twins. TTTS…
Fetofetal TransfusionReproductionFetusCongenital DisordersHuman DevelopmentAs of 2022, Trisomy 21 is the most common type of trisomy, or a condition where the person has three instead of the normal two copies of one of the…
Genetic DisordersGenetic disorders in childrenGenetic disorders in pregnancyGenetic disorders--DiagnosisDown syndromeThe concept Fetal Alcohol Syndrome (FAS) refers to a set of birth defects that occur in children born to mothers who abused alcohol during pregnancy…
fetal alcohol syndromeAbnormalities, HumanCentral Nervous SystemalcoholPregnancy