A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome |
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Authors: | A Smith R Lindeman F Volpato A Kearney S White E Haan R J Trent |
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Institution: | (1) Department of Health, Cytogenetics Unit, Oliver Latham Laboratory, North Ryde, P.O. Box 53, 2113 N.S.W., Australia;(2) Clinical Immunology Research Centre, University of Sydney, Sydney, Australia;(3) Medical Genetics Department, Adelaide Children's Hospital, Adelaide, Australia |
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Abstract: | Summary 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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