Hum Genet. 1991 Mar;86(5):534-6.

A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome.

Smith A, Lindeman R, Volpato F, Kearney A, White S, Haan E, Trent RJ.

Source

Oliver Latham Laboratory, Department of Health, North Ryde, N.S.W., Australia.

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.

PMID:: 2016095; [PubMed - indexed for MEDLINE]

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