Prade willi syndromeA 5 year old boy with mental retardation is grossly obese and has features of prader willi syndrome. Karyotipind and fluorescent in situ hybridization studies do not show deletion in the usual site on chromosome 15. Which of the following findings is most likely to confirm PWS in this child?
DEletion in the short arm of chromosome 15
Duplication within chromosome 15 no
Large trinucleotide repeat expansion in the PWS area of chromosome 15 no
Maternal origin of both chromosome 15, ?????? one paternal and one maternam must be????
Translocation in the short arm of chromosome 15 wrooooooooong
Mental retardation, hyperphagia, obesity, hypogonadism, hypotonia, and behavior like tantrum
Individual has normally inactivated maternal allele. Paternal allele should be active but is deleted.
We know diseases with trinucleotide expansion like Huntington, muscular dystrophy,Freidrich ataxia, x fragile syndrome.
DEletion in the short arm of chromosome 15??? Answer must be with deletion of Paternal chromosome 15, but may match response with just a partial deletion of chromosome too?