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An unbalanced translocation 46,XX,+der(18)t(18;21)(q12.2;q11.2)mat,-21 associated with maternal isodisomy
T J de Ravel1, G Matthijs, J Fryns
1Centre for Human Genetics, KULeuven, UZ Gasthuisberg, Herestraat 49, B3000, Leuven, Belgium.
Annales De Genetique
|August 28, 2001
Abstract:
We report a patient with a 46,XX,+der(18)t(18;21)(q12.2;q11.2)mat,-21 karyotype, in whom the rarely seen adjacent-2 segregation (according to the predicted pachytene diagram model) as well as two cross-overs, resulted in maternal isodisomy 18pter-->18q12.2.