title: A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome.
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.
authors.affiliation: Oliver Latham Laboratory, Department of Health, North Ryde, N.S.W., Australia.
authors.forename: A
authors.initials: A
authors.lastname: Smith
authors.forename: R
authors.initials: R
authors.lastname: Lindeman
authors.forename: F
authors.initials: F
authors.lastname: Volpato
authors.forename: A
authors.initials: A
authors.lastname: Kearney
authors.forename: S
authors.initials: S
authors.lastname: White
authors.forename: E
authors.initials: E
authors.lastname: Haan
authors.forename: R J
authors.initials: RJ
authors.lastname: Trent
mesh_terms: D015139:Blotting, Southern; D002871:Chromosome Banding; D002884:Chromosomes, Human, Pair 15; D005220:Fathers; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D011218:Prader-Willi Syndrome / Q000235:genetics*; D014178:Translocation, Genetic