Deletion of chromosome 15pter→q11.2 due to t(Y;15) in a boy with Prader-Willi syndrome |
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| Authors: | Mazin B. Qumsiyeh James D. Dalton Patricia L. Gordon R. Sid Wilroy Avirachan T. Tharapel |
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| Affiliation: | Division of Genetics, Department of Pediatrics, University of Tennessee, Memphis |
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| 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 paracen-tromeric 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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| Keywords: | Prader-Willi syndrome chromosome 15 fluorescent in situ hybridization |
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