AI Article Synopsis
- - A patient with Prader-Willi syndrome was found to have 45 chromosomes, specifically including a derivative Y chromosome due to an unbalanced translocation between chromosomes Y and 15.
- - Analysis using in situ hybridization revealed positive signals in specific areas of the Y chromosome, indicating structural changes.
- - The patient's Prader-Willi syndrome is linked to a deficiency in a small region on chromosome 15, specifically between the centromere and q11.2.
Article Abstract
Chromosome analysis of lymphocytes from a patient with the clinical presentation of Prader-Willi syndrome showed the presence of 45 chromosomes, including a der(Y) resulting from an unbalanced t(Y;15)(q12;q11.2). In situ hybridization using DYZ3 and DYZ2 showed positive signals at the paracentromeric region on the short arm and at the heterochromatic region of the long arm of the Y chromosome, respectively. The Prader-Willi syndrome in this patient is caused by the deficiency of a very small region involving 15cen-->q11.2.
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| http://dx.doi.org/10.1002/ajmg.1320420122 | DOI Listing |
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