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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 moreSee 1 more doctor answer
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
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
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
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
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 moreSee 1 more doctor answer
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