PubMed:2016095 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/2016095","sourcedb":"PubMed","sourceid":"2016095","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/2016095","text":"A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome.\nInterstitial cytogenetic deletions involving the paternally derived chromosome 15q11-13 have been described in patients with the Prader-Willi syndrome (PWS). We report a child with PWS and a de novo unbalanced karyotype -45,XY,-9,-15,+der(9)t(9;15)(q34;q13). Molecular studies with the DNA probe pML34 confirmed that only a single Prader Willi critical region (PWCR:15q11.2-q12) copy was present. Hybridisation of patient and parental DNA with the multi-allelic probe CMW1, which maps to pter-15q13, showed that the chromosome involved in the translocation was paternal in origin. This is the first example of a paternally-derived PWCR allele loss caused by an unbalanced translocation that has arisen de 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