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Fluorescence in‐situ hybridisation and molecular studies used in the characterisation of a Robertsonian translocation (13 q 15 q ) in Prader‐Willi syndrome
Author(s) -
Smith A.,
Robson L.,
Neumann A.,
Mulcahy M.,
Cbabros V.,
Deng Z.M.,
Woodage T.,
Trent R. J.
Publication year - 1993
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1993.tb04416.x
Subject(s) - robertsonian translocation , chromosomal translocation , dicentric chromosome , centromere , uniparental disomy , biology , genetics , chromosome 21 , fluorescence in situ hybridization , chromosome , karyotype , microbiology and biotechnology , gene
A patient with classical Prader‐Willi syndrome was found to have a Robertsonian translocation 45,XY,t(13 q 15 q )mat. On CBG banding, the translocation chromosome had a large centromere with one primary constriction. Using fluorescence in situ hybridisation, positive signals were obtained with chromosome 13 and chromosome 15 centromere probes, proving that the translocation was dicentric. NOR banding was negative in this chromosome, suggesting that the breakpoints were at 13p11 and 15p11. DNA studies showed that, while there was no deletion involving 15(q11′13), maternal uniparental disomy for chromosome 15 was present. We compare our findings with the five other cases of familial Robertsonian translocation PWS that have been reported.