Article
Detection of molecular rearrangements in Prader-Willi syndrome patients by using genomic probes recognizing four loci within the PWCR.
American journal of medical genetics - 1 Apr 1990
Gregory C A, Kirkilionis A J, Greenberg C R, Chudley A E, Hamerton J L
Abstract excerpt
The Prader-Willi chromosome region (PWCR) in Prader-Willi syndrome patients was analyzed by using genomic DNA probes mapping to 15q11.2-q12. The present report includes analysis of dosage by RFLP and densitometric studies, and analysis of restriction patterns. Twelve Prader-Willi syndrome (PWS) patients were studied: 5 had deletions of 15q11-q13, one had an unbalanced translocation, and 6 were karyotypically...
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