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  • Title: A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome.
    Author: Smith A, Lindeman R, Volpato F, Kearney A, White S, Haan E, Trent RJ.
    Journal: Hum Genet; 1991 Mar; 86(5):534-6. PubMed ID: 2016095.
    Abstract:
    Interstitial 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 novo.
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