A girl with the Prader-Willi Syndrome and Robertsonian translocation 45,XX,t(14;15)(p11;q11) which was present in three normal family members
- 1 August 1980
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 55 (2), 271-273
- https://doi.org/10.1007/bf00291777
Abstract
A 21-year-old girl with classical Prader-Willi Syndrome was found to have a 14;15 Robertsonian translocation—45,XX,t(14;15)(p11;q11). This type of Robertsonian translocation was not found in any patient from 8 surveys covering 6144 patients with mental retardation. Chromosome 15 has been involved in translocations in patients with the Prader-Willi Syndrome with greater than expected frequency. This is the first report of a 14;15 translocation and the Prader-Willi Syndrome. The same balanced translocation was present in the patient's mother and 2 normal siblings. Future genetic counselling for these 2 siblings will be difficult.This publication has 23 references indexed in Scilit:
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