Pathology of Marfan Syndrome
... LTBP play an important role in folding, secreting and targeting TGF β in ECM. Also cysteine rich. LTBP-1 interacts with fibrillin-1 (stabilizer). ...
... LTBP play an important role in folding, secreting and targeting TGF β in ECM. Also cysteine rich. LTBP-1 interacts with fibrillin-1 (stabilizer). ...
Eisenmenger`s Syndrome
... Eisenmenger's syndrome is a form of congenital heart disease in which the pressure in the pulmonary (lung) arteries is high, causing an increased resistance to blood flow in the lungs. The syndrome can occur as a complication of ventricular septal defect, atrial septal defect or persistent ductus ar ...
... Eisenmenger's syndrome is a form of congenital heart disease in which the pressure in the pulmonary (lung) arteries is high, causing an increased resistance to blood flow in the lungs. The syndrome can occur as a complication of ventricular septal defect, atrial septal defect or persistent ductus ar ...
Chromosomal Abnormalities
... There are a number of physical characteristics associated with Down syndrome, although each person with Down syndrome may display only a few of these. The most common physical characteristics include: Eyes – nearly all people with Down syndrome have a slight upward slant of the eyes. There can also ...
... There are a number of physical characteristics associated with Down syndrome, although each person with Down syndrome may display only a few of these. The most common physical characteristics include: Eyes – nearly all people with Down syndrome have a slight upward slant of the eyes. There can also ...
Down Syndrome
... First toe et apart from the others by a gap. Transverse palmer crease in 75%. Clinodactyly of the 5th finger. ...
... First toe et apart from the others by a gap. Transverse palmer crease in 75%. Clinodactyly of the 5th finger. ...
Chromosomal abnormalities
... Mostly triploidy. 45 XO, trisomy 16 98% of fetus with turner abort Generally 6/1000 the incidence of chromosomal abnormalities ...
... Mostly triploidy. 45 XO, trisomy 16 98% of fetus with turner abort Generally 6/1000 the incidence of chromosomal abnormalities ...
Long QT Syndrome
... LQT2 = auditory stimuli LQT3 = at rest or sleep; no benefit from BB Most cases discovered after syncope or arrest ...
... LQT2 = auditory stimuli LQT3 = at rest or sleep; no benefit from BB Most cases discovered after syncope or arrest ...
Chromosomal Disorders
... SEX • “Despite the fact that women are significantly different from men, there is considerable reproductive evidence that they belong to the same species” » British Medical Journal ...
... SEX • “Despite the fact that women are significantly different from men, there is considerable reproductive evidence that they belong to the same species” » British Medical Journal ...
TURNER sYNDROME - Industrial ISD
... • Some have cells in their body with two X chromosomes, but other cells have only one. This is called mosaicism. ...
... • Some have cells in their body with two X chromosomes, but other cells have only one. This is called mosaicism. ...
Happy Heart Syndrome It`s already been proven that intense
... It's already been proven that intense emotional distress -- say, after losing a loved one -- can trigger a cardiac abnormality called "broken heart syndrome." But now new research suggests sudden bursts of joy can have the same effect. The condition, known as Takotsubo syndrome (TTS), occurs when th ...
... It's already been proven that intense emotional distress -- say, after losing a loved one -- can trigger a cardiac abnormality called "broken heart syndrome." But now new research suggests sudden bursts of joy can have the same effect. The condition, known as Takotsubo syndrome (TTS), occurs when th ...
Chromosomal Disorders
... studies suggest that women who have certain versions of some genes that affect how their bodies metabolize (process) the B vitamin folic acid may be at increased risk for having a baby with Down syndrome (5, 6). If confirmed, this finding may provide yet another reason why all women who might become ...
... studies suggest that women who have certain versions of some genes that affect how their bodies metabolize (process) the B vitamin folic acid may be at increased risk for having a baby with Down syndrome (5, 6). If confirmed, this finding may provide yet another reason why all women who might become ...
TURNER SYNDROME
... How do people get Turner syndrome? Normally, females inherit one X chromosome from their mother and one X chromosome from their father. But females who have Turner syndrome are missing one of their X chromosomes. Turner syndrome is typically caused by what is called nondisjunction. If a pair of sex ...
... How do people get Turner syndrome? Normally, females inherit one X chromosome from their mother and one X chromosome from their father. But females who have Turner syndrome are missing one of their X chromosomes. Turner syndrome is typically caused by what is called nondisjunction. If a pair of sex ...
AP Biology
... 2. Show how cross over frequencies are used to make chromosome maps. 3. Describe the inheritance of sex-linked gene such as color-blindness. 4. Explain how sex is genetically determined in humans and the significance of the SRY gene. 5. Describe the process of X-inactivation in female mammals. 6. Di ...
... 2. Show how cross over frequencies are used to make chromosome maps. 3. Describe the inheritance of sex-linked gene such as color-blindness. 4. Explain how sex is genetically determined in humans and the significance of the SRY gene. 5. Describe the process of X-inactivation in female mammals. 6. Di ...
Human Genetic Disorders
... common type of dwarfism (achondroplasia) occurs in one in 15,000 children. A defective gene that stops bone from growing in the usual way causes most bone dysplasias. Sometimes this gene is passed on from a parent to a child (genetic). Much more often, though, the condition arises from a new change ...
... common type of dwarfism (achondroplasia) occurs in one in 15,000 children. A defective gene that stops bone from growing in the usual way causes most bone dysplasias. Sometimes this gene is passed on from a parent to a child (genetic). Much more often, though, the condition arises from a new change ...
Turner Syndrome Lect
... counseling Turner syndrome is not an inherited disorder, and the recurrence risk is low. Due to infertility, it is rarely passed to offspring. Consultation with a geneticist 1. Suspected mosaicism for all, or part 2. Virilization with part of Y chromosome. ...
... counseling Turner syndrome is not an inherited disorder, and the recurrence risk is low. Due to infertility, it is rarely passed to offspring. Consultation with a geneticist 1. Suspected mosaicism for all, or part 2. Virilization with part of Y chromosome. ...
Karyotypes
... Only affecting females Inherit 3 X chromosomes Usually an inch or so taller Unusually long legs and slender torsos Normal sexual characteristics Fertile Slight learning difficulties ...
... Only affecting females Inherit 3 X chromosomes Usually an inch or so taller Unusually long legs and slender torsos Normal sexual characteristics Fertile Slight learning difficulties ...
TURNER SYNDROME - Aristotle University of Thessaloniki
... Loss of ovarian function Hormone imbalances( thyroid, diabetes) Stress and emotional deprivation Diseases affecting the kidneys, heart, lungs or intestines • Bone diseases • Learning problems( esp. in maths) ...
... Loss of ovarian function Hormone imbalances( thyroid, diabetes) Stress and emotional deprivation Diseases affecting the kidneys, heart, lungs or intestines • Bone diseases • Learning problems( esp. in maths) ...
Turner syndrome
Turner syndrome (TS) also known as Ullrich–Turner syndrome, gonadal dysgenesis, and 45,X, is a condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth. Typically they are without menstrual periods, do not develop breasts, and are unable to have children. Heart defects, diabetes, and low thyroid hormone occur more frequently. Most people with TS have normal intelligence. Many, however, have troubles with spatial visualization such as that needed for mathematics. Vision and hearing problems occur more often.Turner syndrome is not usually inherited from a person's parents. No environmental risks are known and the mother's age does not play a role. Turner syndrome is due to a chromosomal abnormality in which all or part of one of the X chromosomes is missing or altered. While most people have 46 chromosomes, people with TS usually only have 45. The chromosomal abnormality may be present in just some cells in which case it is known as TS with mosaicism. In these cases, the symptoms are usually fewer and possibly none occur at all. Diagnosis is based on physical signs and genetic testing.No cure for Turner syndrome is known. Treatment, however, may help with symptoms. Human growth hormone injections during childhood may increase adult height. Estrogen replacement therapy can promote development of the breasts and hips. Medical care is often required to manage other health problems with which TS is associated.Turner syndrome occurs in between one in 2000 and one in 5000 females at birth. All regions of the world and cultures are affected about equally. People with TS have a shorter life expectancy, mostly due to heart problems and diabetes. Henry Turner first described the condition in 1938. In 1964, it was determined to be due to a chromosomal abnormality.