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What is an example of a disorder associated with an error in the number of chromosomes present?
Down syndrome (trisomy 21) is a disorder associated with an error in the number of chromosomes present. Other examples of disorders associated with an error in the number of chromosomes are Trisomy 18 (Edwards Syndrome), Trisomy 13 (Patau Syndrome), Triple X syndrome, and Klinefelter Syndrome.
What physical features mark DiGeorge syndrome?
DiGeorge syndrome may present with physical features such as heart defects, cleft palate, facial differences including a small chin or low-set ears, and various immune system abnormalities. Other features may include developmental delays and learning difficulties.
When was Klinefelter's syndrome discovered?
Klinefelter's syndrome was first identified in 1942 by Harry Klinefelter and his colleagues. They described a group of men with underdeveloped testes and other characteristic features that became known as Klinefelter's syndrome.
Volcanic features like those in Hawaii and Yellowstone are associated with?
Volcanic features like those in Hawaii and Yellowstone are associated with hotspots, which are areas where magma rises to the Earth's surface from deep within the mantle. The magma creates volcanoes, geysers, and other geothermal features in these regions.
What chromosome is the triple x syndrome found on?
Triple X syndrome, also known as 47,XXX, is a genetic condition caused by the presence of an extra X chromosome in females. This condition occurs due to nondisjunction during meiosis, resulting in a total of three X chromosomes instead of the typical two. It is associated with various physical and developmental features, but many individuals may have mild symptoms or none at all. The extra X chromosome is located on the X chromosome itself, so it is not associated with a specific chromosome number other than the X chromosome.
What is an example of a disorder associated with an error in the number of chromosomes present?
Down syndrome (trisomy 21) is a disorder associated with an error in the number of chromosomes present. Other examples of disorders associated with an error in the number of chromosomes are Trisomy 18 (Edwards Syndrome), Trisomy 13 (Patau Syndrome), Triple X syndrome, and Klinefelter Syndrome.
Is not a characteristic of nephrotic syndrome?
A characteristic that is not associated with nephrotic syndrome is hematuria, or the presence of blood in the urine. Nephrotic syndrome primarily features significant proteinuria, hypoalbuminemia, and edema due to the loss of protein in the urine. Hematuria is more commonly linked to other kidney conditions, such as glomerulonephritis.
What are other names for cat eye syndrome?
Cat eye syndrome is also known as Schmid-Fraccaro syndrome and is sometimes referred to by its genetic designation, 22q11.2 deletion syndrome. This condition is characterized by various physical abnormalities, including eye defects that resemble a cat's eye. The name reflects the distinctive appearance of the eyes, but it can also be associated with other features and health issues.
What physical features mark DiGeorge syndrome?
DiGeorge syndrome may present with physical features such as heart defects, cleft palate, facial differences including a small chin or low-set ears, and various immune system abnormalities. Other features may include developmental delays and learning difficulties.
How is Velo cardio facial syndrome detected?
Velocardiofacial syndrome (VCFS) is a disorder that has been associated with over thirty different features. The name velocardiofacial syndrome comes from the Latin words "velum" meaning palate, "cardia" meaning heart and "facies" having to do with the face. Velocardiofacial syndrome may also be known as Shprintzen syndrome, DiGeorge syndrome, Craniofacial syndrome or Conotruncal Anomaly Unusual Face Syndrome. Get more information about Velocardiofacial syndrome at http://velocardiofacial-syndrome.blogspot.com Thanks
How prevalent is Capgras syndrome?
Capgras is mislabled as a syndrome. It is a delusion most often associated with schizophrenic type mental illnessess, particularly that aspect of schizophrenia that includes paranoia and other associated delusions.
What is an inherited syndrome marked by a tall thin body with arachnodactyly?
Marfan syndrome is an inherited disorder characterized by a tall, thin body with long limbs and fingers (arachnodactyly). Other features of Marfan syndrome include heart, eye, and skeletal abnormalities due to a genetic mutation affecting connective tissue. It can vary in severity and may require medical management to address associated complications.
What syndrome is a genetic disorder that includes charactristic facial features some degree of retardation vision disorders and other health problems?
Down Syndrome
When was Klinefelter's syndrome discovered?
Klinefelter's syndrome was first identified in 1942 by Harry Klinefelter and his colleagues. They described a group of men with underdeveloped testes and other characteristic features that became known as Klinefelter's syndrome.
Who discovered Ellis-van Creveld Syndrome?
Ellis-van Creveld syndrome was first described by Dr. Richard Ellis and Dr. Simon van Creveld in the 1940s. Their work identified the key features of the condition, which is a genetic disorder characterized by skeletal dysplasia and other anomalies. The syndrome is notably associated with congenital heart defects and is often seen in individuals of Amish descent.
What is mukawells syndrome?
Mukawells syndrome is a rare genetic disorder characterized by a combination of symptoms, including developmental delays, intellectual disability, and distinctive facial features. It is often associated with skeletal abnormalities and may involve other organ systems. The syndrome is caused by mutations in specific genes and is inherited in an autosomal dominant manner. Due to its rarity, detailed information about Mukawells syndrome may be limited, and diagnosis often requires genetic testing.
With what other associated abnormalities can Klippel Feil syndrome occur?
Klippel Feil syndrome can occur in association with scoliosis, spina bifida, cleft palate and defects involving the urinary tract, kidneys, heart, brain, and skeleton
