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Doctor insights on: Prader Willi Syndrome Williams Syndrome

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Can you tell on a karyotype if someone has prader-willi syndrome?

Sometimes: Prader-willi syndrome can be caused by a deletion in chromosome 15 that is visible on routine cytogenetic analysis. Other patents have a submicroscopic deletion that is only visible by fish analysis or cgh microarray. Still others have the syndrome because of uniparental disomy detectable by a methylation study. ...Read more

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Dr. Fred McCurdy
63 doctors shared insights

Williams Syndrome (Definition)

Neurodevelopmental disorder characterized by loquacious personality, abnormally sensitive hearing, supravalvular aortic stenosis, mental retardation, elfin facies, association with hypercalcemia due to abnormal sensitivity to vitamin d, idiopathic hypercalcemia of pregnancy. Due to deletion in elastin gene and probably several ...Read more


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Need a simple explaination for this. What is prader-willi syndrome?

Need a simple explaination for this. What is prader-willi syndrome?

70% of cases of P-W: Occur when the paternal chromosome 15 genes q11-q13 are missing. In 25%, the entire paternal chromosome 15 is missing ; both come from mother. Rarely, in <5%, father's genes are present but their activity has been turned off by faulty "imprinting", which can be either accidental ; not hereditary or from the genes he inherited from his mother, with a 50% chance of p-w for each child he has. ...Read more

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Is prader willi syndrome hereditary?

Not typically: Prader willi is most commonly a random genetic abnormality that occurs early in development of fetus. There is usually no history of the disease in the family. ...Read more

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Could you give me info on prader willi syndrome.?

Needs a specialist: The syndrome occurs when genes on chromosome 15 are deleted or fail to express in 1 per 25,000 births. It can be recognized and helped by a genetics or endocrinology specialist and services to assist with problems such as excessive appetite, obesity, muscle weakness and developmental delay. Also see www.//pwsusa.org for support from the Prader Willi Association. ...Read more

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What is prader-willi syndrome?

What is prader-willi syndrome?

Genetic anomaly: Kids with prader willi syndrome usually obtain the genetic analy from the paternal gene. It is characterized by problems with muscle tone, even noticeable during pregnancy, also due to this difficulty feeding , poor weight gain, as infants. This changes after age 2 when kids develop over eating that can lead to morbid obesity. Also found are; scoliosis, cognitive problems, delayed puberty, etc. ...Read more

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What are the tests for prader-willi syndrome?

What are the tests for prader-willi syndrome?

See below:: High resolution chromosomal analysis; fish (stands for fluorescence in situ hybridization, often done at the same time as a chromosome analysis); and new molecular tests: dna methylation test (confirms or rules out pws as a diagnosis, with over 99% accuracy);dna polymorphism studies (done to detect upd-uniparental disomy, requires blood samples from both parents and child for best accuracy). ...Read more

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How long does it take to heal prader willi syndrome?

Doesn't go away: Prader willi syndrome is a genetically linked syndrome that is set in motion at conception.The defect involved is permanent and will produce lifelong issues. ...Read more

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Do you know if there are different types of prader-willi syndrome?

Do you know if there are different types of prader-willi syndrome?

A genetic disorder: Usually from a deletion of a gene on the chromosome 15 inherited from the father, it can also come from having both chr 15's from the mother or both acting as if they came from mother. Infants have low muscle tone ; trouble gaining weight; food craving ; weight gain start about 18 mos. They have congenital anomalies, intellectual disability, compulsive behavior, ; medical problems due to obesity. ...Read more

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What are features of prader willi syndrome ?

H3O: Hyperphagia (voracious appetite), hypotonia (low muscle tone), hypopigmentation (light colored), and obesity are classic pictures of prader-willi syndrome. ...Read more

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How to tell if someone has prader-willi syndrome?

DNA testing: Pws is certainly suspected in obese child with severe hypotonia and hygonadism. ...Read more

Dr. Leslie Benson
82 doctors shared insights

Prader Willi Syndrome (Definition)

Prader-Willi syndrome is a genetic disorder characterized by excessive eating during childhood and extreme obesity. Other problems include speech delay, poor motor coordination and ...Read more